CNMX
MCID: MYP136
MIFTS: 59

Myopathy, Centronuclear, X-Linked (CNMX)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Myopathy, Centronuclear, X-Linked

MalaCards integrated aliases for Myopathy, Centronuclear, X-Linked:

Name: Myopathy, Centronuclear, X-Linked 56 73 39
X-Linked Myotubular Myopathy 12 24 52 25 58 73
Xlmtm 12 24 52 25 58 73
X-Linked Centronuclear Myopathy 24 52 25 58
Xlcnm 12 24 52 58
Cnmx 56 12 73
Mtm1 56 12 73
Centronuclear Myopathy X-Linked 12 15
Myotubular Myopathy, X-Linked 56 13
Myotubular Myopathy 1 56 12
Mtmx 56 25
Myotubular Myopathy, X-Linked; Mtmx; Xlmtm 56
Myotubular Myopathy 1; Mtm1 56
Myotubular Myopathy Type 1 73
Myotubular Myopathy 24
Xmtm 25
Mtm 24
Cnm 25

Characteristics:

Orphanet epidemiological data:

58
x-linked centronuclear myopathy
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (France),1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood;

OMIM:

56
Miscellaneous:
usually fatal in infancy
some carrier females may manifest mild symptoms

Inheritance:
x-linked recessive


HPO:

31
myopathy, centronuclear, x-linked:
Inheritance x-linked recessive inheritance


GeneReviews:

24
Penetrance Penetrance is thought to be 100% in males with a pathogenic variant in mtm1, as all have shown findings of the disease. however, disease severity can range from mild to severe....

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Myopathy, Centronuclear, X-Linked

Genetics Home Reference : 25 X-linked myotubular myopathy is a condition that primarily affects muscles used for movement (skeletal muscles) and occurs almost exclusively in males. People with this condition have muscle weakness (myopathy) and decreased muscle tone (hypotonia) that are usually evident at birth. The muscle problems in X-linked myotubular myopathy impair the development of motor skills such as sitting, standing, and walking. Affected infants may also have difficulties with feeding due to muscle weakness. Individuals with this condition often do not have the muscle strength to breathe on their own and must be supported with a machine to help them breathe (mechanical ventilation). Some affected individuals need breathing assistance only periodically, typically during sleep, while others require it continuously. People with X-linked myotubular myopathy may also have weakness in the muscles that control eye movement (ophthalmoplegia), weakness in other muscles of the face, and absent reflexes (areflexia). In X-linked myotubular myopathy, muscle weakness often disrupts normal bone development and can lead to fragile bones, an abnormal curvature of the spine (scoliosis), and joint deformities (contractures) of the hips and knees. People with X-linked myotubular myopathy may have a large head with a narrow and elongated face and a high, arched roof of the mouth (palate). They may also have liver disease, recurrent ear and respiratory infections, or seizures. Because of their severe breathing problems, individuals with X-linked myotubular myopathy usually survive only into early childhood; however, some people with this condition have lived into adulthood. X-linked myotubular myopathy is a member of a group of disorders called centronuclear myopathy. In centronuclear myopathy, the nucleus is found at the center of many rod-shaped muscle cells instead of at either end, where it is normally located.

MalaCards based summary : Myopathy, Centronuclear, X-Linked, also known as x-linked myotubular myopathy, is related to ptosis and sensory peripheral neuropathy. An important gene associated with Myopathy, Centronuclear, X-Linked is MTM1 (Myotubularin 1), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, skeletal muscle and liver, and related phenotypes are muscular hypotonia and scoliosis

Disease Ontology : 12 A centronuclear myopathy that has material basis in X-linked inheritance of mutations in MTM1 on Xq28.

NIH Rare Diseases : 52 X-linked myotubular myopathy (XLMTM) is a type of centronuclear myopathy , which is a group of rare, inherited conditions that affect the muscles. XLMTM, specifically, occurs almost exclusively in males and is characterized by progressive muscle weakness (myopathy) and decreased muscle tone (hypotonia ) that can range from mild to severe. The muscle problems impair the development of motor skills such as sitting, standing, and walking, and may disrupt primary functions such as breathing and feeding. XLMTM is caused by changes (mutations ) in the MTM1 gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person and may include physical and/or occupational therapy and assistive devices to help with mobility, eating and/or breathing.

UniProtKB/Swiss-Prot : 73 Myopathy, centronuclear, X-linked: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.

More information from OMIM: 310400 PS160150
GeneReviews: NBK1432

Related Diseases for Myopathy, Centronuclear, X-Linked

Diseases related to Myopathy, Centronuclear, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 134, show less)
# Related Disease Score Top Affiliating Genes
1 ptosis 32.4 RYR1 MTMR14 MTM1 DNM2 BIN1
2 sensory peripheral neuropathy 32.2 SBF2 MTMR2 MTM1
3 peliosis hepatis 32.1 MTM1 DNM2
4 myopathy, centronuclear, 2 32.1 RYR1 MTM1 BIN1
5 central core myopathy 32.1 RYR1 MTM1 DNM2
6 myopathy, centronuclear, 1 32.0 RYR1 MTMR14 MTM1 DNM2 BIN1
7 charcot-marie-tooth disease intermediate type 32.0 SBF2 MTMR2 MTM1 DNM2
8 charcot-marie-tooth disease, dominant intermediate b 32.0 SBF2 MTMR2 MTM1 DNM2
9 charcot-marie-tooth disease, axonal, type 2e 32.0 SBF2 SBF1 MTMR2 MTM1 DNM2
10 early-onset glaucoma 32.0 SBF2 SBF1 MTMR2 MTM1
11 peripheral nervous system disease 31.7 SBF2 RYR1 MTMR2 MTM1 DNM2
12 neuropathy, congenital hypomyelinating, 1, autosomal recessive 31.7 SBF2 SBF1 PIKFYVE MTMR2 MTM1 DNM2
13 charcot-marie-tooth disease, type 4b2 31.6 SBF2 SBF1 PIKFYVE MTMR2 MTMR1 MTM1
14 charcot-marie-tooth disease, type 4b1 31.6 SBF2 SBF1 PIKFYVE MTMR2 MTMR1 MTM1
15 congenital fiber-type disproportion 31.5 RYR1 MTM1 HACD1 DNM2 BIN1
16 charcot-marie-tooth disease, type 4b3 31.5 SBF2 SBF1 PIKFYVE MTMR3 MTMR2 MTM1
17 charcot-marie-tooth disease 31.1 SBF2 SBF1 PIKFYVE MTMR6 MTMR2 MTMR14
18 tooth disease 30.8 SBF2 SBF1 MTMR2 DNM2
19 myopathy, congenital 30.6 RYR1 MTM1 HACD1 DNM2
20 myopathy 30.2 SBF1 RYR1 MTMR2 MTMR14 MTMR1 MTM1
21 neuromuscular disease 30.1 SBF2 SBF1 RYR1 PIKFYVE MTMR2 MTM1
22 centronuclear myopathy 27.5 SBF2 SBF1 RYR1 PIKFYVE PIK3C2B MTMR8
23 polyhydramnios 11.6
24 myotubular myopathy with abnormal genital development 11.4
25 muscular disease 11.4
26 microcephaly 11.2
27 spinal muscular atrophy 11.2
28 dilated cardiomyopathy 11.2
29 respiratory system disease 11.2
30 spinal muscular atrophy, distal, autosomal recessive, 1 11.0
31 nemaline myopathy 5 11.0
32 inflammatory bowel disease 8 11.0
33 inflammatory bowel disease 21 11.0
34 myopathy, centronuclear, 4 11.0
35 myopathy, centronuclear, 6, with fiber-type disproportion 11.0
36 endocardium disease 11.0
37 spinal muscular atrophy type 0 11.0
38 ocular motility disease 11.0
39 congenital myasthenic syndrome 11.0
40 congenital structural myopathy 11.0
41 meningeal melanoma 11.0
42 malignant leptomeningeal tumor 11.0
43 muscle tissue disease 11.0
44 malignant hyperthermia 11.0
45 dental caries 10.6
46 myotonic dystrophy 10.5
47 infective endocarditis 10.5
48 respiratory failure 10.5
49 scoliosis 10.5
50 endocarditis 10.5
51 charcot-marie-tooth disease, dominant intermediate e 10.4 SBF2 MTMR2 DNM2
52 charcot-marie-tooth disease, type 4a 10.4 SBF2 MTMR2 DNM2
53 pectus excavatum 10.4
54 muscular atrophy 10.4
55 dysphagia 10.4
56 charcot-marie-tooth disease, demyelinating, type 1f 10.4 SBF2 SBF1 MTMR2
57 charcot-marie-tooth disease, axonal, type 2b 10.4 SBF2 MTMR2 DNM2
58 charcot-marie-tooth disease, axonal, type 2j 10.3 SBF2 MTMR2
59 charcot-marie-tooth disease, demyelinating, type 4f 10.3 SBF2 MTMR2
60 charcot-marie-tooth disease, type 4j 10.3 SBF2 PIKFYVE MTMR2
61 non-alcoholic steatohepatitis 10.3
62 charcot-marie-tooth disease, demyelinating, type 1b 10.3 SBF2 MTMR2
63 yunis-varon syndrome 10.3 SBF2 PIKFYVE MTMR2
64 corneal dystrophy, fleck 10.2 SBF2 PIKFYVE MTMR2
65 kearns-sayre syndrome 10.2
66 nephrolithiasis, calcium oxalate 10.2
67 pneumothorax, primary spontaneous 10.2
68 cryptorchidism, unilateral or bilateral 10.2
69 masa syndrome 10.2
70 gallbladder disease 1 10.2
71 chylothorax, congenital 10.2
72 joint laxity, short stature, and myopia 10.2
73 alkuraya-kucinskas syndrome 10.2
74 cardiac arrest 10.2
75 x-linked recessive disease 10.2
76 hydrocephalus 10.2
77 asphyxia neonatorum 10.2
78 myopia 10.2
79 pyloric stenosis 10.2
80 nephrocalcinosis 10.2
81 pneumothorax 10.2
82 chronic wasting disease 10.2
83 nephrolithiasis 10.2
84 learning disability 10.2
85 limb-girdle muscular dystrophy 10.2
86 mitochondrial disorders 10.2
87 hypotonia 10.2
88 congenital amyoplasia 10.2
89 nemaline myopathy 10.2
90 charcot-marie-tooth disease, type 4h 10.2 SBF2 SBF1 PIKFYVE MTMR2
91 charcot-marie-tooth disease and deafness 10.2 SBF2 SBF1 MTMR2 DNM2
92 charcot-marie-tooth disease, type 4d 10.2 SBF2 MTMR2
93 aortic aneurysm, familial abdominal, 1 10.2
94 gastric cancer 10.2
95 atrial fibrillation 10.2
96 exocrine pancreatic insufficiency 10.2
97 ischemia 10.2
98 aortic aneurysm 10.2
99 cerebrovascular disease 10.2
100 wolff-parkinson-white syndrome 10.1
101 macular degeneration, age-related, 1 10.1
102 non-alcoholic fatty liver disease 10.1
103 bacterial infectious disease 10.1
104 transient cerebral ischemia 10.1
105 arteriosclerosis 10.1
106 iga glomerulonephritis 10.1
107 fatty liver disease 10.1
108 triiodothyronine receptor auxiliary protein 10.1
109 mucopolysaccharidosis, type ii 10.1
110 muscle hypertrophy 10.1
111 autosomal recessive disease 10.1
112 hypospadias 10.1
113 cholestasis 10.1
114 muscular dystrophy 10.1
115 47,xyy 10.1
116 atp8b1 deficiency 10.1
117 encephalopathy 10.1
118 floppy infant syndrome 10.1
119 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
120 atrioventricular block 10.1
121 visual epilepsy 10.1
122 dementia 10.1
123 hemangioma 10.1
124 central nervous system disease 10.1
125 craniopharyngioma 10.1
126 cavernous hemangioma 10.1
127 cataract 10.1
128 nervous system disease 10.1
129 neuropathy 10.1
130 foot drop 10.1
131 myotonia 10.1
132 seizure disorder 10.1
133 posttransplant acute limbic encephalitis 10.1
134 charcot-marie-tooth disease, type 4c 10.0 SBF2 MTMR2

Graphical network of the top 20 diseases related to Myopathy, Centronuclear, X-Linked:



Diseases related to Myopathy, Centronuclear, X-Linked

Symptoms & Phenotypes for Myopathy, Centronuclear, X-Linked

Human phenotypes related to Myopathy, Centronuclear, X-Linked:

58 31 (showing 37, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
2 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
3 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
4 atrioventricular block 58 31 frequent (33%) Frequent (79-30%) HP:0001678
5 emg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0003457
6 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
7 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
8 mask-like facies 58 31 frequent (33%) Frequent (79-30%) HP:0000298
9 areflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001284
10 cavernous hemangioma 58 31 frequent (33%) Frequent (79-30%) HP:0001048
11 external ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000544
12 head tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002346
13 respiratory failure requiring assisted ventilation 58 31 frequent (33%) Frequent (79-30%) HP:0004887
14 seizure 31 frequent (33%) HP:0001250
15 macrocephaly 31 HP:0000256
16 seizures 58 Frequent (79-30%)
17 hydrocephalus 31 HP:0000238
18 flexion contracture 31 HP:0001371
19 generalized muscle weakness 31 HP:0003324
20 cryptorchidism 31 HP:0000028
21 high palate 31 HP:0000218
22 neonatal respiratory distress 31 HP:0002643
23 arachnodactyly 31 HP:0001166
24 narrow face 31 HP:0000275
25 polyhydramnios 31 HP:0001561
26 facial palsy 31 HP:0010628
27 long face 31 HP:0000276
28 decreased fetal movement 31 HP:0001558
29 pyloric stenosis 31 HP:0002021
30 severe muscular hypotonia 31 HP:0006829
31 respiratory failure 31 HP:0002878
32 slender toe 31 HP:0011308
33 hypokinesia 31 HP:0002375
34 decreased liver function 31 HP:0001410
35 neck muscle weakness 31 HP:0000467
36 diaphragmatic eventration 31 HP:0009110
37 birth length greater than 97th percentile 31 HP:0003517

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
cryptorchidism

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Abdomen Gastrointestinal:
pyloric stenosis

Abdomen Liver:
decreased liver function
fatal liver hemorrhage

Head And Neck Mouth:
high-arched palate

Skeletal:
joint contractures

Head And Neck Head:
large head circumference

Chest Diaphragm:
eventration of the diaphragm
atrophic, thin diaphragm
elevated hemidiaphragm in symptomatic carrier females

Skeletal Hands:
slender, long digits
unilateral skeletal asymmetry in symptomatic carrier females

Muscle Soft Tissue:
generalized muscle weakness also seen in symptomatic carrier females
muscle biopsy shows small fibers with central nuclei and accumulation of mitochondria in the central part of the fibers
muscle fibers appear as fetal myotubules
muscle fibers are immunoreactive for desmin and vimentin

Respiratory:
neonatal respiratory distress
respiratory failure often resulting in ventilator dependency

Neurologic Central Nervous System:
areflexia
hypotonia, severe
decreased spontaneous movements
'floppy' infants
hydrocephalus (less common)

Head And Neck Eyes:
external ophthalmoplegia

Head And Neck Neck:
neck muscle weakness

Head And Neck Face:
facial muscle weakness
narrow, elongated face

Prenatal Manifestations Movement:
decreased fetal movements

Growth Height:
increased birth length (>90th percentile)

Skeletal Limbs:
unilateral skeletal asymmetry (arm and leg) in symptomatic carrier females

Skeletal Feet:
slender, long digits

Clinical features from OMIM:

310400

GenomeRNAi Phenotypes related to Myopathy, Centronuclear, X-Linked according to GeneCards Suite gene sharing:

26 (showing 10, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.11 MTMR4 PIK3C2B
2 Decreased viability GR00055-A-2 10.11 MTMR4 PIK3C2B
3 Decreased viability GR00173-A 10.11 MTMR12
4 Decreased viability GR00221-A-3 10.11 PIK3C2B
5 Decreased viability GR00221-A-4 10.11 PIK3C2B
6 Decreased viability GR00249-S 10.11 CMTM1 DOLPP1 MTMR8 PIKFYVE RYR1
7 Decreased viability GR00386-A-1 10.11 MTM1 MTMR12
8 Decreased viability GR00402-S-2 10.11 MTMR1 MTMR2 MTMR4 MTMR6
9 Increased Akt phosphorylation after EGF stimulation GR00204-A-2 8.96 MTMR2 MTMR3
10 Increased the percentage of infected cells GR00402-S-1 8.32 BIN1

MGI Mouse Phenotypes related to Myopathy, Centronuclear, X-Linked:

45 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 BIN1 DNM2 HACD1 MTM1 MTMR14 PIKFYVE

Drugs & Therapeutics for Myopathy, Centronuclear, X-Linked

Drugs for Myopathy, Centronuclear, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 7, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Early Phase 1 51-84-3 187
2 Cholinergic Agents Early Phase 1
3 Cholinesterase Inhibitors Early Phase 1
4 Pyridostigmine Bromide Early Phase 1 101-26-8
5 Anticonvulsants Early Phase 1
6 Neurotransmitter Agents Early Phase 1
7 Bromides Early Phase 1

Interventional clinical trials:

(showing 13, show less)
# Name Status NCT ID Phase Drugs
1 A Prospective, Randomized Comparative Parallel Study of Acellular Porcine Dermal Matrix Wound Dressing in the Management of Diabetic Foot Ulcers Completed NCT01353495 Phase 3
2 A Phase 1/2 Trial on the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of DYN101 in Patients ≥ 16 Years of Age With Centronuclear Myopathies Caused by Mutations in DNM2 or MTM1. Recruiting NCT04033159 Phase 1, Phase 2 DYN101
3 ASPIRO: A Phase 1/2, Randomized, Open-Label, Ascending-Dose, Delayed-Treatment Concurrent Control Clinical Study to Evaluate the Safety and Efficacy of AT132, an AAV8-Delivered Gene Therapy in X-Linked Myotubular Myopathy (XLMTM) Patients Active, not recruiting NCT03199469 Phase 1, Phase 2
4 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies Unknown status NCT03351270
5 Prospective Study of Adverse Event Rates in Males With X-Linked Myotubular Myopathy Completed NCT01840657
6 The RECENSUS Study: A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM) Completed NCT02231697
7 INCEPTUS: A Prospective, Non-Interventional Clinical Assessment Study in X Linked Myotubular Myopathy (XLMTM) Subjects Aged 3 Years and Younger Completed NCT02704273
8 Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM) Completed NCT02453152
9 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM) Completed NCT02057705
10 Myotubular Myopathy Genetic Testing Study Completed NCT01817946
11 Myotubular and Centronuclear Myopathy Patient Registry Recruiting NCT04064307
12 Molecular Analysis of Neuromuscular Disease Recruiting NCT00272883
13 Evaluation of Respiratory and Skeletal Muscle Functions in Response to Acetylcholinesterase Inhibitors in Pompe Disease Terminated NCT02357225 Early Phase 1 Pyridostigmine Bromide

Search NIH Clinical Center for Myopathy, Centronuclear, X-Linked

Genetic Tests for Myopathy, Centronuclear, X-Linked

Anatomical Context for Myopathy, Centronuclear, X-Linked

MalaCards organs/tissues related to Myopathy, Centronuclear, X-Linked:

40
Bone, Skeletal Muscle, Liver, Eye, Testes

Publications for Myopathy, Centronuclear, X-Linked

Articles related to Myopathy, Centronuclear, X-Linked:

(showing 170, show less)
# Title Authors PMID Year
1
MTM1 mutations in X-linked myotubular myopathy. 24 6 56 61
10790201 2000
2
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. 24 61 6 56
9305655 1997
3
X-linked myotubular myopathy--a long-term follow-up study. 56 24 6
10726846 1998
4
Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. 6 56 24
9285787 1997
5
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. 24 56 6
8640223 1996
6
Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations. 61 56 6
11552027 2001
7
Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene. 6 56 61
9450905 1998
8
Genetic linkage heterogeneity in myotubular myopathy. 6 56 61
7611280 1995
9
X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation. 56 6
12707446 2003
10
Diagnosis of X-linked myotubular myopathy by detection of myotubularin. 24 61 56
11456308 2001
11
Germline mosaicism in X-linked myotubular myopathy. 24 56 61
10466421 1999
12
A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy. 56 6
9199578 1997
13
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy. 24 56
24569376 2014
14
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. 24 56
19197364 2009
15
X-linked myotubular myopathy in a family with three adult survivors. 6 24
12859411 2003
16
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. 6 24
12522554 2003
17
Medical complications in long-term survivors with X-linked myotubular myopathy. 24 56
9931531 1999
18
Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity. 24 56
9541111 1998
19
Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region. 24 56
7726166 1995
20
Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle. 56 24
2357647 1990
21
Gene expression analyses in X-linked myotubular myopathy. 61 56
16157907 2005
22
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. 61 56
12391329 2002
23
A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy. 61 56
10714588 2000
24
Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother. 56 61
10323249 1999
25
Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy. 61 56
10502779 1999
26
X-linked myotubular myopathy: clinical observations in ten additional cases. 56 61
8588581 1995
27
The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28. 56 61
7881289 1994
28
X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. 56 61
2352256 1990
29
X-linked recessive myotubular myopathy: II. Muscle morphology and human myogenesis. 56 61
6542063 1984
30
A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study. 61 24
29149770 2018
31
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues. 24 61
28685322 2017
32
Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male. 61 24
28622964 2017
33
Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs. 24 61
28237839 2017
34
Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations. 24 61
28007904 2017
35
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers. 24 61
27017278 2016
36
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons. 61 24
26823526 2016
37
Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy. 61 24
24452262 2014
38
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. 24 61
23307925 2013
39
Clinical utility gene card for: Centronuclear and myotubular myopathies. 6
22617344 2012
40
Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies. 61 24
21440438 2011
41
Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations. 24 61
20434914 2010
42
Centronuclear myopathies: a widening concept. 24 61
20181480 2010
43
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. 61 24
19846786 2009
44
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. 24 61
19084976 2009
45
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. 6
17932957 2007
46
Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. 61 24
17537630 2007
47
Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1. 24 61
17005396 2006
48
X-linked myotubular and centronuclear myopathies. 24 61
16042307 2005
49
Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations. 56
15883335 2005
50
Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy. 56
15690409 2005
51
X-Linked Myotubular Myopathy 6
20301605 2002
52
Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy. 61 24
9781038 1998
53
Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy. 56
9169146 1997
54
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. 56
8544184 1995
55
X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684). 56
7891372 1994
56
Neonatal centronuclear myopathy with N-CAM decorated myotubes. 56
7969799 1994
57
Vimentin and desmin in maturing skeletal muscle and developmental myopathies. 56
1641160 1992
58
Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy. 56
1867257 1991
59
Centronuclear myopathy heterogeneity: distinction of clinical types by myosin isoform patterns. 56
1824643 1991
60
X-linked centronuclear myopathy: mapping the gene to Xq28. 56
1822801 1991
61
Severe neonatal asphyxia due to X-linked centronuclear myopathy. 56
2279510 1990
62
X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28. 56
1972196 1990
63
X-linked myotubular myopathy: a linkage study. 56
1972354 1990
64
A linkage study of a large pedigree with X linked centronuclear myopathy. 56
2352255 1990
65
X-linked myotubular myopathy: clinical and pathological findings in a family. 56
2670345 1989
66
X-linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female. 56
3652496 1987
67
Congenital eventration of the diaphragm: an unusual cause of intractable neonatal respiratory distress with variable etiology. 56
3605197 1987
68
Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children. 56
4075080 1985
69
Severe neonatal centronuclear myopathy with autosomal dominant inheritance. 56
2994607 1985
70
X-linked recessive myotubular myopathy: I. Clinical and pathologic findings in a family. 56
6539297 1984
71
Neonatal myotubular myopathy: neuropathy and failure of postnatal maturation of fetal muscle. 56
7326611 1981
72
X-linked recessive congenital muscle fiber hypotrophy with central nuclei: abnormalities of growth and adenylate cyclase in muscle tissue cultures. 56
573609 1979
73
X-linked myotubular myopathy with fatal neonatal asphyxia. 56
1168872 1975
74
Familial neuromuscular disease with "myotubes". 56
4136736 1974
75
Familial centronuclear myopathy. 56
5478951 1970
76
Familial "myotubular" myopathy. 56
5816884 1969
77
Type I fiber hypotrophy and central nuclei. A rare congenital muscle abnormality with a possible experimental model. 56
4230186 1968
78
Myotubular myopathy. Persistence of fetal muscle in an adolescent boy. 56
4954227 1966
79
Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: Case report and literature review of MTM1 manifesting female carriers. 24
29567349 2018
80
Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction. 24
29391587 2018
81
The MTM1-UBQLN2-HSP complex mediates degradation of misfolded intermediate filaments in skeletal muscle. 24
29358706 2018
82
Malignant Hyperthermia Susceptibility and Related Diseases. 24
28902673 2018
83
Myofibril contraction and crosslinking drive nuclear movement to the periphery of skeletal muscle. 24
28892082 2017
84
A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy. 24
28852708 2017
85
A natural history study of X-linked myotubular myopathy. 24
28842446 2017
86
Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice. 24
28589938 2017
87
WANTED - Dead or alive: Myotubularins, a large disease-associated protein family. 24
27666502 2017
88
PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models. 24
27548528 2016
89
Analysis of protein-coding genetic variation in 60,706 humans. 24
27535533 2016
90
A phosphoinositide conversion mechanism for exit from endosomes. 24
26760201 2016
91
N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy. 24
25262827 2014
92
Fatal hepatic hemorrhage by peliosis hepatis in X-linked myotubular myopathy: a case report. 24
24011703 2013
93
Genotype-phenotype correlations in recessive RYR1-related myopathies. 24
23919265 2013
94
Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database. 24
22968136 2013
95
Large duplication in MTM1 associated with myotubular myopathy. 24
23273872 2013
96
Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models. 24
22645112 2012
97
Consensus statement on standard of care for congenital myopathies. 24
22431881 2012
98
Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice. 24
23071445 2012
99
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. 24
20927630 2011
100
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. 24
21135508 2011
101
RYR1 mutations are a common cause of congenital myopathies with central nuclei. 24
20839240 2010
102
Dementia in a child with myotubular myopathy. 24
19433289 2009
103
Membrane traffic and muscle: lessons from human disease. 24
18266915 2008
104
Myotubularin lipid phosphatase binds the hVPS15/hVPS34 lipid kinase complex on endosomes. 24
17651088 2007
105
Orthopaedic complications of myotubular myopathy. 24
17195806 2007
106
Myotubularin phosphatases: policing 3-phosphoinositides. 24
16828287 2006
107
Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism. 24
15725586 2005
108
118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy). 24
15145343 2004
109
Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction. 24
14722070 2004
110
Expression of myotubularin by an adenoviral vector demonstrates its function as a phosphatidylinositol 3-phosphate [PtdIns(3)P] phosphatase in muscle cell lines: involvement of PtdIns(3)P in insulin-stimulated glucose transport. 24
14500759 2003
111
The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles. 24
12118066 2002
112
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. 24
11793470 2002
113
The myotubularin family: from genetic disease to phosphoinositide metabolism. 24
11275328 2001
114
Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. 24
10900271 2000
115
The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case. 24
10449925 1999
116
The role of immunocytochemistry in congenital myopathies. 24
9713857 1998
117
Myotubular myopathy: morphological, immunohistochemical and clinical variation. 24
9631395 1998
118
Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region. 24
8789451 1996
119
Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis. 61
31484632 2020
120
AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy. 61
31784415 2020
121
Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy. 61
30884204 2019
122
X-linked myotubular myopathy: A prospective international natural history study. 61
30902907 2019
123
A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array. 61
30541163 2019
124
Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy. 61
30451843 2018
125
Non-compaction cardiomyopathy and early respiratory failure in an adult symptomatic female carrier of centronuclear myopathy caused by a MTM1 mutation. 61
30241883 2018
126
An integrated modelling methodology for estimating the prevalence of centronuclear myopathy. 61
30122513 2018
127
Successful use of non-invasive positive pressure ventilation in a patient with the severe form of X-linked myotubular myopathy. 61
29343419 2018
128
Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice. 61
29408998 2018
129
Long-term effects of systemic gene therapy in a canine model of myotubular myopathy. 61
28370029 2017
130
Phosphatidylinositol 3-kinase inhibition restores Ca2+ release defects and prolongs survival in myotubularin-deficient mice. 61
27911767 2016
131
Gene therapy in monogenic congenital myopathies. 61
26454198 2016
132
Respiratory motor function in individuals with centronuclear myopathies. 61
26351754 2016
133
Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis. 61
26338224 2016
134
Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy. 61
26605308 2015
135
Validity of a Neurological Scoring System for Canine X-Linked Myotubular Myopathy. 61
26086764 2015
136
Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years. 61
27858727 2015
137
Validity of a neurological scoring system for canine X-linked myotubular myopathy. 61
25970698 2015
138
Syngeneic Myoblast Transplantation Improves Muscle Function in a Murine Model of X-Linked Myotubular Myopathy. 61
25197964 2015
139
Clinical phenotype of X-linked myotubular myopathy in Labrador Retriever puppies. 61
25581576 2015
140
Gait characteristics in a canine model of X-linked myotubular myopathy. 61
25281397 2014
141
Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X-linked myotubular myopathy. 61
24861988 2014
142
Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways. 61
23695157 2013
143
Extensive morphological and immunohistochemical characterization in myotubular myopathy. 61
24381816 2013
144
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. 61
23818870 2013
145
Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle. 61
23390130 2013
146
X-linked recessive myotubular myopathy with MTM1 mutations. 61
23559977 2013
147
Defective autophagy and mTORC1 signaling in myotubularin null mice. 61
23109424 2013
148
Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations. 61
23346162 2013
149
Muscle function in a canine model of X-linked myotubular myopathy. 61
22987702 2012
150
Establishing clinical end points of respiratory function in large animals for clinical translation. 61
22239876 2012
151
Identification of a mutation in the MTM1 gene, associated with X-linked myotubular myopathy, in a Greek family. 61
22435031 2011
152
X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation. 61
21488203 2011
153
Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance. 61
21347281 2011
154
Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice. 61
21281811 2011
155
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. 61
20682747 2010
156
Detection of myotubularin phosphatases activity on phosphoinositides in vitro and ex vivo. 61
19160676 2009
157
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. 61
18434328 2008
158
[Unilateral presentation of X-linked myotubular myopathy (XLMTM) in two out of three female carriers in a family with no affected male]. 61
18358876 2008
159
X-linked myotubular myopathy: report of a case with novel mutation. 61
17621527 2007
160
Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells. 61
14660569 2004
161
Implication of phosphoinositide phosphatases in genetic diseases: the case of myotubularin. 61
14618257 2003
162
Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC). 61
12031625 2002
163
Normal innervation and differentiation of X-linked myotubular myopathy muscle cells in a nerve-muscle coculture system. 61
11595516 2001
164
Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease. 61
10439967 1999
165
Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients. 61
10063835 1999
166
Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. 61
9736772 1998
167
Detection of a new polymorphism in the plasma-membrane Ca2+ ATPase isoform-3 gene and its exclusion as a candidate for X-linked myotubular myopathy (MTM1). 61
8931700 1996
168
X-linked myotubular myopathy: refinement of the critical gene region. 61
8887957 1996
169
Abnormal expression of intermediate filament proteins in X-linked myotubular myopathy is not reproduced in vitro. 61
7580238 1995
170
Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins. 61
7608737 1995

Variations for Myopathy, Centronuclear, X-Linked

ClinVar genetic disease variations for Myopathy, Centronuclear, X-Linked:

6 (showing 219, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MTM1 NM_000252.2(MTM1):c.342+1G>ASNV Pathogenic 435903 rs1557413092 X:149783173-149783173 X:150614700-150614700
2 MTM1 NM_000252.2(MTM1):c.465del (p.Asn155fs)deletion Pathogenic 435901 rs1557413783 X:149807436-149807436 X:150638963-150638963
3 MTM1 NM_000252.2(MTM1):c.1178dup (p.Leu393fs)duplication Pathogenic 435902 rs1557414513 X:149826416-149826417 X:150657943-150657944
4 MTM1 NM_000252.2(MTM1):c.1210G>A (p.Glu404Lys)SNV Pathogenic 530855 rs781933660 X:149826450-149826450 X:150657977-150657977
5 MTM1 NM_000252.2(MTM1):c.1381C>T (p.Gln461Ter)SNV Pathogenic 633470 rs782234944 X:149828871-149828871 X:150660398-150660398
6 MTM1 NM_000252.2(MTM1):c.593A>C (p.Tyr198Ser)SNV Pathogenic 633473 rs1569565497 X:149809806-149809806 X:150641333-150641333
7 MTM1 NM_000252.2(MTM1):c.1053+1G>ASNV Pathogenic 633472 rs587783751 X:149818375-149818375 X:150649902-150649902
8 MTM1 NC_000023.10:g.(?_149831886)_(149840088_?)deldeletion Pathogenic 645882 X:149831886-149840088
9 MTM1 NC_000023.10:g.(?_149761067)_(149840078_?)deldeletion Pathogenic 658991 X:149761067-149840078
10 MTM1 NM_000252.2(MTM1):c.64-2A>GSNV Pathogenic 649278 X:149764960-149764960 X:150596496-150596496
11 MTM1 NM_000252.3(MTM1):c.136+1G>TSNV Pathogenic 804097 X:149765035-149765035 X:150596571-150596571
12 MTM1 NM_000252.3(MTM1):c.482_485TGGA[2] (p.Trp164fs)short repeat Pathogenic 804098 X:149807453-149807456 X:150638980-150638983
13 MTM1 NC_000023.10:g.(?_149831896)_(149832092_?)deldeletion Pathogenic 831990 X:149831896-149832092
14 MTM1 NM_000252.3(MTM1):c.624del (p.Ser209fs)deletion Pathogenic 851646 X:149809836-149809836 X:150641363-150641363
15 DNM2 NM_004945.3(DNM2):c.1844C>G (p.Ser615Trp)SNV Pathogenic 7286 rs121909095 19:10934538-10934538 19:10823862-10823862
16 MTM1 NM_000252.2(MTM1):c.566A>G (p.Asn189Ser)SNV Pathogenic 11053 rs132630302 X:149809779-149809779 X:150641306-150641306
17 MTM1 NM_000252.2(MTM1):c.1190A>G (p.Tyr397Cys)SNV Pathogenic 11054 rs132630303 X:149826430-149826430 X:150657957-150657957
18 MTM1 NM_000252.2(MTM1):c.205C>T (p.Arg69Cys)SNV Pathogenic 11055 rs132630304 X:149767124-149767124 X:150598660-150598660
19 MTM1 NM_000252.2(MTM1):c.141_144del (p.Glu48fs)deletion Pathogenic 11057 rs587783791 X:149767058-149767061 X:150598594-150598597
20 MTM1 NM_000252.2(MTM1):c.1261-10A>GSNV Pathogenic 11058 rs397518445 X:149828127-149828127 X:150659654-150659654
21 MTM1 NM_000252.2(MTM1):c.721C>T (p.Arg241Cys)SNV Pathogenic 11059 rs132630305 X:149814198-149814198 X:150645725-150645725
22 MTM1 NM_000252.2(MTM1):c.670C>T (p.Arg224Ter)SNV Pathogenic 11060 rs132630306 X:149809883-149809883 X:150641410-150641410
23 MTM1 NM_000252.2(MTM1):c.605del (p.Leu202fs)deletion Pathogenic 11061 rs672601325 X:149809815-149809815 X:150641342-150641342
24 MTM1 NM_000252.2(MTM1):c.469G>A (p.Glu157Lys)SNV Pathogenic 11062 rs132630307 X:149807440-149807440 X:150638967-150638967
25 MTM1 NM_000252.2(MTM1):c.145G>A (p.Val49Ile)SNV Pathogenic 158939 rs587783796 X:149767064-149767064 X:150598600-150598600
26 MTM1 NM_000252.2(MTM1):c.145G>T (p.Val49Phe)SNV Pathogenic 158940 rs587783796 X:149767064-149767064 X:150598600-150598600
27 MTM1 NM_000252.2(MTM1):c.153_156del (p.Ile52fs)deletion Pathogenic 158948 rs587783803 X:149767070-149767073 X:150598606-150598609
28 MTM1 NM_000252.2(MTM1):c.154del (p.Ile52fs)deletion Pathogenic 158949 rs587783804 X:149767073-149767073 X:150598609-150598609
29 MTM1 NM_000252.2(MTM1):c.205C>G (p.Arg69Gly)SNV Pathogenic 158954 rs132630304 X:149767124-149767124 X:150598660-150598660
30 MTM1 NM_000252.2(MTM1):c.208C>T (p.Leu70Phe)SNV Pathogenic 158955 rs587783809 X:149767127-149767127 X:150598663-150598663
31 MTM1 NM_000252.2(MTM1):c.231+1G>ASNV Pathogenic 158956 rs587783810 X:149767151-149767151 X:150598687-150598687
32 MTM1 NM_000252.2(MTM1):c.231+2T>GSNV Pathogenic 158957 rs587783811 X:149767152-149767152 X:150598688-150598688
33 MTM1 NM_000252.2(MTM1):c.232-3C>ASNV Pathogenic 158960 rs587783814 X:149783059-149783059 X:150614586-150614586
34 MTM1 NM_000252.2(MTM1):c.232-2A>CSNV Pathogenic 158959 rs587783813 X:149783060-149783060 X:150614587-150614587
35 MTM1 NM_000252.2(MTM1):c.232-1G>ASNV Pathogenic 158958 rs587783812 X:149783061-149783061 X:150614588-150614588
36 MTM1 NM_000252.2(MTM1):c.252del (p.Asp84fs)deletion Pathogenic 158961 rs587783815 X:149783082-149783082 X:150614609-150614609
37 MTM1 NM_000252.2(MTM1):c.260T>C (p.Leu87Pro)SNV Pathogenic 158962 rs587783816 X:149783090-149783090 X:150614617-150614617
38 MTM1 NM_000252.2(MTM1):c.301A>G (p.Ser101Gly)SNV Pathogenic 158964 rs587783818 X:149783131-149783131 X:150614658-150614658
39 MTM1 NM_000252.2(MTM1):c.340A>T (p.Lys114Ter)SNV Pathogenic 158965 rs587783819 X:149783170-149783170 X:150614697-150614697
40 MTM1 NM_000252.2(MTM1):c.70C>T (p.Arg24Ter)SNV Pathogenic 92678 rs398123275 X:149764968-149764968 X:150596504-150596504
41 MTM1 NM_000252.2(MTM1):c.2T>G (p.Met1Arg)SNV Pathogenic 158963 rs587783817 X:149761078-149761078 X:150592616-150592616
42 MTM1 NM_000252.2(MTM1):c.3G>A (p.Met1Ile)SNV Pathogenic 158969 rs587783823 X:149761079-149761079 X:150592617-150592617
43 MTM1 NM_000252.2(MTM1):c.63+1G>ASNV Pathogenic 158989 rs587783843 X:149761140-149761140 X:150592678-150592678
44 MTM1 NM_000252.2(MTM1):c.64-1G>ASNV Pathogenic 158993 rs587783846 X:149764961-149764961 X:150596497-150596497
45 MTM1 NM_000252.2(MTM1):c.85C>T (p.Arg29Ter)SNV Pathogenic 159004 rs587783857 X:149764983-149764983 X:150596519-150596519
46 MTM1 NM_000252.2(MTM1):c.109C>T (p.Arg37Ter)SNV Pathogenic 158895 rs587783753 X:149765007-149765007 X:150596543-150596543
47 MTM1 NM_000252.2(MTM1):c.343-2A>GSNV Pathogenic 158967 rs587783821 X:149787509-149787509 X:150619036-150619036
48 MTM1 NM_000252.2(MTM1):c.395_396AT[1] (p.Met133fs)short repeat Pathogenic 158968 rs587783822 X:149787563-149787564 X:150619090-150619091
49 MTM1 NM_000252.2(MTM1):c.402del (p.Phe134fs)deletion Pathogenic 158970 rs587783824 X:149787568-149787568 X:150619095-150619095
50 MTM1 NM_000252.2(MTM1):c.420C>G (p.Tyr140Ter)SNV Pathogenic 158971 rs587783825 X:149787588-149787588 X:150619115-150619115
51 MTM1 NM_000252.2(MTM1):c.431del (p.Leu144fs)deletion Pathogenic 158972 rs587783826 X:149787599-149787599 X:150619126-150619126
52 MTM1 NM_000252.2(MTM1):c.469del (p.Glu157fs)deletion Pathogenic 158973 rs587783827 X:149807440-149807440 X:150638967-150638967
53 MTM1 NM_000252.2(MTM1):c.514G>T (p.Glu172Ter)SNV Pathogenic 158974 rs587783828 X:149807485-149807485 X:150639012-150639012
54 MTM1 NM_000252.2(MTM1):c.528+1G>TSNV Pathogenic 158976 rs587783830 X:149807500-149807500 X:150639027-150639027
55 MTM1 NM_000252.2(MTM1):c.529-2A>GSNV Pathogenic 158977 rs587783831 X:149809740-149809740 X:150641267-150641267
56 MTM1 NM_000252.2(MTM1):c.535C>T (p.Pro179Ser)SNV Pathogenic 158978 rs587783832 X:149809748-149809748 X:150641275-150641275
57 MTM1 NM_000252.2(MTM1):c.539_545del (p.Asn180fs)deletion Pathogenic 158979 rs587783833 X:149809749-149809755 X:150641276-150641282
58 MTM1 NM_000252.2(MTM1):c.549G>A (p.Trp183Ter)SNV Pathogenic 158980 rs587783834 X:149809762-149809762 X:150641289-150641289
59 MTM1 NM_000252.2(MTM1):c.550A>G (p.Arg184Gly)SNV Pathogenic 158981 rs587783835 X:149809763-149809763 X:150641290-150641290
60 MTM1 NM_000252.2(MTM1):c.557C>T (p.Thr186Ile)SNV Pathogenic 158982 rs587783836 X:149809770-149809770 X:150641297-150641297
61 MTM1 NM_000252.2(MTM1):c.139_141del (p.Lys47del)deletion Pathogenic 158931 rs587783788 X:149767058-149767060 X:150598594-150598596
62 MTM1 NM_000252.2(MTM1):c.591_594del (p.Tyr198fs)deletion Pathogenic 158985 rs587783839 X:149809802-149809805 X:150641329-150641332
63 MTM1 NM_000252.2(MTM1):c.611T>G (p.Val204Gly)SNV Pathogenic 158986 rs587783840 X:149809824-149809824 X:150641351-150641351
64 MTM1 NM_000252.2(MTM1):c.614C>T (p.Pro205Leu)SNV Pathogenic 158987 rs587783841 X:149809827-149809827 X:150641354-150641354
65 MTM1 NM_000252.2(MTM1):c.629A>G (p.Asp210Gly)SNV Pathogenic 158988 rs587783842 X:149809842-149809842 X:150641369-150641369
66 MTM1 NM_000252.2(MTM1):c.637C>T (p.Leu213Phe)SNV Pathogenic 158991 rs587783845 X:149809850-149809850 X:150641377-150641377
67 MTM1 NM_000252.2(MTM1):c.664C>T (p.Arg222Ter)SNV Pathogenic 158994 rs587783847 X:149809877-149809877 X:150641404-150641404
68 MTM1 NM_000252.2(MTM1):c.678+1G>ASNV Pathogenic 158996 rs587783849 X:149809892-149809892 X:150641419-150641419
69 MTM1 NM_000252.2(MTM1):c.679G>A (p.Val227Met)SNV Pathogenic 158997 rs587783850 X:149814156-149814156 X:150645683-150645683
70 MTM1 NM_000252.2(MTM1):c.683T>C (p.Leu228Pro)SNV Pathogenic 158998 rs587783851 X:149814160-149814160 X:150645687-150645687
71 MTM1 NM_000252.2(MTM1):c.757C>T (p.Arg253Ter)SNV Pathogenic 159001 rs587783854 X:149814234-149814234 X:150645761-150645761
72 MTM1 NM_000252.2(MTM1):c.779A>C (p.Tyr260Ser)SNV Pathogenic 159002 rs587783855 X:149814256-149814256 X:150645783-150645783
73 MTM1 NM_000252.2(MTM1):c.791T>G (p.Ile264Ser)SNV Pathogenic 159003 rs587783856 X:149814268-149814268 X:150645795-150645795
74 MTM1 NM_000252.2(MTM1):c.867+1G>ASNV Pathogenic 159005 rs587783858 X:149814345-149814345 X:150645872-150645872
75 MTM1 NM_000252.2(MTM1):c.888_889del (p.Glu296_Ser297insTer)deletion Pathogenic 159006 rs587783859 X:149818208-149818209 X:150649735-150649736
76 MTM1 NM_000252.2(MTM1):c.912del (p.Glu305fs)deletion Pathogenic 159007 rs587783860 X:149818232-149818232 X:150649759-150649759
77 MTM1 NM_000252.2(MTM1):c.1053+1G>CSNV Pathogenic 158893 rs587783751 X:149818375-149818375 X:150649902-150649902
78 MTM1 NM_000252.2(MTM1):c.1088_1089del (p.Lys363fs)deletion Pathogenic 158894 rs587783752 X:149826327-149826328 X:150657854-150657855
79 MTM1 NM_000252.2(MTM1):c.1120C>G (p.His374Asp)SNV Pathogenic 158896 rs587783754 X:149826360-149826360 X:150657887-150657887
80 MTM1 NM_000252.2(MTM1):c.1132G>A (p.Gly378Arg)SNV Pathogenic 158897 rs587783755 X:149826372-149826372 X:150657899-150657899
81 MTM1 NM_000252.2(MTM1):c.1136G>A (p.Trp379Ter)SNV Pathogenic 158898 rs587783756 X:149826376-149826376 X:150657903-150657903
82 MTM1 NM_000252.2(MTM1):c.1137G>A (p.Trp379Ter)SNV Pathogenic 158899 rs587783757 X:149826377-149826377 X:150657904-150657904
83 MTM1 NM_000252.2(MTM1):c.1139A>T (p.Asp380Val)SNV Pathogenic 158900 rs587783758 X:149826379-149826379 X:150657906-150657906
84 MTM1 NM_000252.2(MTM1):c.1160C>A (p.Ser387Tyr)SNV Pathogenic 158901 rs587783759 X:149826400-149826400 X:150657927-150657927
85 MTM1 NM_000252.2(MTM1):c.958T>C (p.Ser320Pro)SNV Pathogenic 159010 rs587783863 X:149818279-149818279 X:150649806-150649806
86 MTM1 NM_000252.2(MTM1):c.961_962del (p.Leu321fs)deletion Pathogenic 159011 rs587783864 X:149818281-149818282 X:150649808-150649809
87 MTM1 NM_000252.2(MTM1):c.969del (p.Lys323_Val324insTer)deletion Pathogenic 159012 rs587783865 X:149818284-149818284 X:150649811-150649811
88 MTM1 NM_000252.2(MTM1):c.1191T>G (p.Tyr397Ter)SNV Pathogenic 158903 rs587783761 X:149826431-149826431 X:150657958-150657958
89 MTM1 NM_000252.2(MTM1):c.1205G>C (p.Gly402Ala)SNV Pathogenic 158904 rs587783762 X:149826445-149826445 X:150657972-150657972
90 MTM1 NM_000252.2(MTM1):c.1232G>A (p.Trp411Ter)SNV Pathogenic 158905 rs587783763 X:149826472-149826472 X:150657999-150657999
91 MTM1 NM_000252.2(MTM1):c.1261-1G>CSNV Pathogenic 158912 rs587783770 X:149828136-149828136 X:150659663-150659663
92 MTM1 NM_000252.2(MTM1):c.1261C>T (p.Arg421Ter)SNV Pathogenic 158913 rs587783771 X:149828137-149828137 X:150659664-150659664
93 MTM1 NM_000252.2(MTM1):c.1262G>A (p.Arg421Gln)SNV Pathogenic 158914 rs587783772 X:149828138-149828138 X:150659665-150659665
94 MTM1 NM_000252.2(MTM1):c.1283_1286del (p.Asn428fs)deletion Pathogenic 158915 rs587783773 X:149828158-149828161 X:150659685-150659688
95 MTM1 NM_000252.2(MTM1):c.1244G>A (p.Gly415Glu)SNV Pathogenic 158908 rs587783766 X:149826484-149826484 X:150658011-150658011
96 MTM1 NM_000252.2(MTM1):c.1260+1G>ASNV Pathogenic 158910 rs587783768 X:149826501-149826501 X:150658028-150658028
97 MTM1 NM_000252.2(MTM1):c.1307del (p.Pro436fs)deletion Pathogenic 158917 rs587783775 X:149828182-149828182 X:150659709-150659709
98 MTM1 NM_000252.2(MTM1):c.1353+1G>ASNV Pathogenic 158921 rs587783779 X:149828230-149828230 X:150659757-150659757
99 MTM1 NM_000252.2(MTM1):c.1353+2T>CSNV Pathogenic 158922 rs587783780 X:149828231-149828231 X:150659758-150659758
100 MTM1 NM_000252.2(MTM1):c.1354-1G>ASNV Pathogenic 158924 rs587783782 X:149828843-149828843 X:150660370-150660370
101 MTM1 NM_000252.2(MTM1):c.1376A>T (p.Asn459Ile)SNV Pathogenic 158927 rs587783785 X:149828866-149828866 X:150660393-150660393
102 MTM1 NM_000252.2(MTM1):c.1378G>T (p.Glu460Ter)SNV Pathogenic 158928 rs587783786 X:149828868-149828868 X:150660395-150660395
103 MTM1 NM_000252.2(MTM1):c.1420C>T (p.Arg474Ter)SNV Pathogenic 158935 rs587783792 X:149828910-149828910 X:150660437-150660437
104 MTM1 NM_000252.2(MTM1):c.1427G>T (p.Gly476Val)SNV Pathogenic 158936 rs587783793 X:149828917-149828917 X:150660444-150660444
105 MTM1 NM_000252.2(MTM1):c.1433T>C (p.Phe478Ser)SNV Pathogenic 158937 rs587783794 X:149828923-149828923 X:150660450-150660450
106 MTM1 NM_000252.2(MTM1):c.1456C>T (p.Arg486Ter)SNV Pathogenic 158938 rs587783795 X:149828946-149828946 X:150660473-150660473
107 MTM1 NM_000252.2(MTM1):c.1465_1468del (p.Gln489fs)deletion Pathogenic 158941 rs587783797 X:149828952-149828955 X:150660479-150660482
108 MTM1 NM_000252.2(MTM1):c.1467+1G>ASNV Pathogenic 158942 rs587783798 X:149828958-149828958 X:150660485-150660485
109 MTM1 NM_000252.2(MTM1):c.1467+1G>TSNV Pathogenic 158943 rs587783798 X:149828958-149828958 X:150660485-150660485
110 MTM1 NM_000252.2(MTM1):c.1467+2T>ASNV Pathogenic 158944 rs587783799 X:149828959-149828959 X:150660486-150660486
111 MTM1 NM_000252.2(MTM1):c.1495T>C (p.Trp499Arg)SNV Pathogenic 158946 rs587783801 X:149831933-149831933 X:150663460-150663460
112 MTM1 NM_000252.2(MTM1):c.1509del (p.Asn503fs)deletion Pathogenic 158947 rs587783802 X:149831947-149831947 X:150663474-150663474
113 MTM1 NM_000252.2(MTM1):c.1558C>T (p.Arg520Ter)SNV Pathogenic 158950 rs587783805 X:149831996-149831996 X:150663523-150663523
114 MTM1 NM_000252.2(MTM1):c.549dup (p.Arg184fs)duplication Pathogenic 211535 rs797045719 X:149809760-149809761 X:150641287-150641288
115 MTM1 NM_000252.2(MTM1):c.808_811del (p.Gln270fs)deletion Pathogenic 211536 rs797045720 X:149814282-149814285 X:150645809-150645812
116 MTM1 NM_000252.2(MTM1):c.867_867+1dupduplication Pathogenic 211537 rs797045721 X:149814343-149814344 X:150645870-150645871
117 MTM1 NM_000252.2(MTM1):c.949dup (p.Met317fs)duplication Pathogenic 211538 rs797045722 X:149818269-149818270 X:150649796-150649797
118 MTM1 NM_000252.2(MTM1):c.969dup (p.Val324fs)duplication Pathogenic 211539 rs587783865 X:149818283-149818284 X:150649810-150649811
119 MTM1 NM_000252.2(MTM1):c.1015dup (p.Ser339fs)duplication Pathogenic 211524 rs797045709 X:149818335-149818336 X:150649862-150649863
120 MTM1 NM_000252.2(MTM1):c.1089dup (p.Val364fs)duplication Pathogenic 211525 rs587783752 X:149826326-149826327 X:150657853-150657854
121 MTM1 NM_000252.2(MTM1):c.1227_1228delinsT (p.Lys409fs)indel Pathogenic 211526 rs797045711 X:149826467-149826468 X:150657994-150657995
122 MTM1 NM_000252.2(MTM1):c.1283del (p.Asn428fs)deletion Pathogenic 211527 rs797045712 X:149828155-149828155 X:150659682-150659682
123 MTM1 NM_000252.2(MTM1):c.1306_1308del (p.Pro436del)deletion Pathogenic 211528 rs797045713 X:149828180-149828182 X:150659707-150659709
124 MTM1 NM_000252.2(MTM1):c.1349_1353+4deldeletion Pathogenic 211530 rs797045715 X:149828223-149828231 X:150659750-150659758
125 MTM1 NM_000252.2(MTM1):c.1792del (p.His598fs)deletion Pathogenic 158953 rs34119065 X:149840045-149840045 X:150671572-150671572
126 MTM1 NM_000252.2(MTM1):c.96dup (p.Glu33Ter)duplication Pathogenic 211540 rs797045724 X:149764993-149764994 X:150596529-150596530
127 MTM1 NM_000252.2(MTM1):c.130dup (p.Ile44fs)duplication Pathogenic 211529 rs797045714 X:149765026-149765027 X:150596562-150596563
128 MTM1 NM_000252.2(MTM1):c.342_342+4deldeletion Pathogenic 211532 rs797045717 X:149783168-149783172 X:150614695-150614699
129 MTM1 NM_000252.2(MTM1):c.419dup (p.Tyr140Ter)duplication Pathogenic 211533 rs797045718 X:149787586-149787587 X:150619113-150619114
130 MTM1 NM_000252.2(MTM1):c.1337G>A (p.Trp446Ter)SNV Pathogenic 158920 rs587783778 X:149828213-149828213 X:150659740-150659740
131 MTM1 NM_000252.2(MTM1):c.226G>T (p.Glu76Ter)SNV Pathogenic 369659 rs1057516031 X:149767145-149767145 X:150598681-150598681
132 DNM2 NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu)SNV Pathogenic/Likely pathogenic 7285 rs121909095 19:10934538-10934538 19:10823862-10823862
133 MTM1 NM_000252.2(MTM1):c.676C>A (p.Pro226Thr)SNV Likely pathogenic 158995 rs587783848 X:149809889-149809889 X:150641416-150641416
134 MTM1 NM_000252.2(MTM1):c.575A>G (p.Tyr192Cys)SNV Likely pathogenic 158984 rs587783838 X:149809788-149809788 X:150641315-150641315
135 MTM1 NM_000252.2(MTM1):c.1180G>C (p.Asp394His)SNV Likely pathogenic 158902 rs587783760 X:149826420-149826420 X:150657947-150657947
136 MTM1 NM_000252.2(MTM1):c.921_923CTT[1] (p.Phe308del)short repeat Likely pathogenic 159009 rs587783862 X:149818240-149818242 X:150649767-150649769
137 MTM1 NM_000252.2(MTM1):c.743G>T (p.Gly248Val)SNV Likely pathogenic 159000 rs587783853 X:149814220-149814220 X:150645747-150645747
138 MTM1 NM_000252.2(MTM1):c.63+3A>TSNV Likely pathogenic 158990 rs587783844 X:149761142-149761142 X:150592680-150592680
139 MTM1 NM_000252.2(MTM1):c.342+4A>GSNV Likely pathogenic 158966 rs587783820 X:149783176-149783176 X:150614703-150614703
140 MTM1 NM_000252.2(MTM1):c.679-1G>ASNV Likely pathogenic 11056 rs672601324 X:149814155-149814155 X:150645682-150645682
141 MTM1 NC_000023.10:g.(?_149783042)_(149787632_?)deldeletion Likely pathogenic 644829 X:149783042-149787632
142 MTM1 NM_000252.2(MTM1):c.1204G>A (p.Gly402Arg)SNV Likely pathogenic 577943 rs1569565525 X:149826444-149826444 X:150657971-150657971
143 MTM1 NC_000023.10:g.(?_149826294)_(149826500_?)deldeletion Likely pathogenic 583992 X:149826294-149826500
144 MTM1 NC_000023.10:g.(?_149826274)_(149826520_?)deldeletion Likely pathogenic 584000 X:149826274-149826520
145 MTM1 NC_000023.10:g.(?_149826274)_(149840088_?)deldeletion Likely pathogenic 530860 X:149826274-149840088
146 MTM1 NM_000252.2(MTM1):c.1388T>C (p.Leu463Ser)SNV Likely pathogenic 158929 rs587783787 X:149828878-149828878 X:150660405-150660405
147 MTM1 NM_000252.2(MTM1):c.1388T>G (p.Leu463Trp)SNV Likely pathogenic 158930 rs587783787 X:149828878-149828878 X:150660405-150660405
148 MTM1 NM_000252.2(MTM1):c.1325T>A (p.Ile442Asn)SNV Likely pathogenic 158918 rs587783776 X:149828201-149828201 X:150659728-150659728
149 MTM1 NM_000252.2(MTM1):c.1328A>C (p.Asp443Ala)SNV Likely pathogenic 158919 rs587783777 X:149828204-149828204 X:150659731-150659731
150 MTM1 NM_000252.2(MTM1):c.1307C>T (p.Pro436Leu)SNV Likely pathogenic 158916 rs587783774 X:149828183-149828183 X:150659710-150659710
151 MTM1 NM_000252.2(MTM1):c.1233G>T (p.Trp411Cys)SNV Likely pathogenic 158906 rs587783764 X:149826473-149826473 X:150658000-150658000
152 MTM1 NM_000252.2(MTM1):c.1234A>G (p.Ile412Val)SNV Likely pathogenic 158907 rs587783765 X:149826474-149826474 X:150658001-150658001
153 MTM1 NM_000252.2(MTM1):c.1036T>C (p.Trp346Arg)SNV Likely pathogenic 158892 rs587783750 X:149818357-149818357 X:150649884-150649884
154 MTM1 NM_000252.2(MTM1):c.1260+5G>ASNV Conflicting interpretations of pathogenicity 158911 rs587783769 X:149826505-149826505 X:150658032-150658032
155 MTM1 NM_000252.2(MTM1):c.1406A>G (p.His469Arg)SNV Conflicting interpretations of pathogenicity 158932 rs587783789 X:149828896-149828896 X:150660423-150660423
156 MTM1 NM_000252.2(MTM1):c.1367T>C (p.Phe456Ser)SNV Conflicting interpretations of pathogenicity 158925 rs587783783 X:149828857-149828857 X:150660384-150660384
157 MTM1 NM_000252.2(MTM1):c.1701C>T (p.Tyr567=)SNV Conflicting interpretations of pathogenicity 158951 rs587783806 X:149839957-149839957 X:150671484-150671484
158 MTM1 NM_000252.2(MTM1):c.1505T>A (p.Ile502Lys)SNV Conflicting interpretations of pathogenicity 435904 rs1557414802 X:149831943-149831943 X:150663470-150663470
159 MTM1 NM_000252.2(MTM1):c.1052A>G (p.Lys351Arg)SNV Conflicting interpretations of pathogenicity 500885 rs150430628 X:149818373-149818373 X:150649900-150649900
160 MTM1 NM_000252.2(MTM1):c.688T>C (p.Trp230Arg)SNV Conflicting interpretations of pathogenicity 92677 rs398123274 X:149814165-149814165 X:150645692-150645692
161 MTM1 NM_000252.2(MTM1):c.141A>G (p.Lys47=)SNV Uncertain significance 158933 rs587783790 X:149767060-149767060 X:150598596-150598596
162 MTM1 NM_000252.2(MTM1):c.137-7T>GSNV Uncertain significance 158926 rs587783784 X:149767049-149767049 X:150598585-150598585
163 MTM1 NM_000252.2(MTM1):c.526C>A (p.Gln176Lys)SNV Uncertain significance 158975 rs587783829 X:149807497-149807497 X:150639024-150639024
164 MTM1 NM_000252.2(MTM1):c.867+4A>TSNV Uncertain significance 461699 rs1322584849 X:149814348-149814348 X:150645875-150645875
165 MTM1 NM_000252.2(MTM1):c.481G>A (p.Val161Met)SNV Uncertain significance 572307 rs782744530 X:149807452-149807452 X:150638979-150638979
166 MTM1 NM_000252.2(MTM1):c.734C>T (p.Pro245Leu)SNV Uncertain significance 461698 rs1557413958 X:149814211-149814211 X:150645738-150645738
167 MTM1 NM_000252.2(MTM1):c.1406A>C (p.His469Pro)SNV Uncertain significance 530854 rs587783789 X:149828896-149828896 X:150660423-150660423
168 MTM1 NM_000252.2(MTM1):c.1724A>G (p.Gln575Arg)SNV Uncertain significance 530853 rs1347335331 X:149839980-149839980 X:150671507-150671507
169 MTM1 NM_000252.2(MTM1):c.65C>T (p.Thr22Met)SNV Uncertain significance 577570 rs781886721 X:149764963-149764963 X:150596499-150596499
170 MTM1 NM_000252.2(MTM1):c.1724A>C (p.Gln575Pro)SNV Uncertain significance 566537 rs1347335331 X:149839980-149839980 X:150671507-150671507
171 MTM1 NM_000252.2(MTM1):c.1667G>A (p.Arg556His)SNV Uncertain significance 576601 rs372735301 X:149839923-149839923 X:150671450-150671450
172 MTM1 NM_000252.2(MTM1):c.5C>T (p.Ala2Val)SNV Uncertain significance 646347 X:149761081-149761081 X:150592619-150592619
173 MTM1 NM_000252.2(MTM1):c.76_90del (p.Gly26_Asp30del)deletion Uncertain significance 658934 X:149764967-149764981 X:150596503-150596517
174 MTM1 NM_000252.2(MTM1):c.233A>T (p.Asp78Val)SNV Uncertain significance 663663 X:149783063-149783063 X:150614590-150614590
175 MTM1 NM_000252.2(MTM1):c.530G>T (p.Gly177Val)SNV Uncertain significance 649438 X:149809743-149809743 X:150641270-150641270
176 MTM1 NM_000252.2(MTM1):c.543C>G (p.His181Gln)SNV Uncertain significance 663498 X:149809756-149809756 X:150641283-150641283
177 MTM1 NM_000252.2(MTM1):c.1666C>T (p.Arg556Cys)SNV Uncertain significance 660442 X:149839922-149839922 X:150671449-150671449
178 MTM1 NM_000252.2(MTM1):c.1225A>G (p.Lys409Glu)SNV Uncertain significance 633471 rs1569565526 X:149826465-149826465 X:150657992-150657992
179 MTM1 NM_000252.3(MTM1):c.728G>A (p.Ser243Asn)SNV Uncertain significance 840681 X:149814205-149814205 X:150645732-150645732
180 MTM1 NM_000252.3(MTM1):c.1184G>A (p.Ser395Asn)SNV Uncertain significance 848095 X:149826424-149826424 X:150657951-150657951
181 MTM1 NM_000252.3(MTM1):c.1212A>C (p.Glu404Asp)SNV Uncertain significance 841786 X:149826452-149826452 X:150657979-150657979
182 MTM1 NM_000252.3(MTM1):c.1300C>T (p.Arg434Cys)SNV Uncertain significance 855557 X:149828176-149828176 X:150659703-150659703
183 MTM1 NM_000252.3(MTM1):c.1383A>G (p.Gln461=)SNV Uncertain significance 835787 X:149828873-149828873 X:150660400-150660400
184 MTM1 NM_000252.3(MTM1):c.678+6T>ASNV Uncertain significance 853487 X:149809897-149809897 X:150641424-150641424
185 MTM1 NC_000023.10:g.(?_149839891)_(149840078_?)deldeletion Uncertain significance 830576 X:149839891-149840078
186 MTM1 NM_000252.3(MTM1):c.397A>G (p.Met133Val)SNV Uncertain significance 858453 X:149787565-149787565 X:150619092-150619092
187 MTM1 NM_000252.3(MTM1):c.439A>G (p.Ser147Gly)SNV Uncertain significance 841905 X:149787607-149787607 X:150619134-150619134
188 MTM1 NC_000023.10:g.(?_149761067)_(150573540_?)dupduplication Uncertain significance 831242 X:149761067-150573540
189 MTM1 NC_000023.10:g.(?_149783052)_(149840078_?)dupduplication Uncertain significance 832044 X:149783052-149840078
190 MTM1 NM_000252.2(MTM1):c.1353G>A (p.Gln451=)SNV Uncertain significance 158923 rs587783781 X:149828229-149828229 X:150659756-150659756
191 MTM1 NM_000252.3(MTM1):c.954G>C (p.Arg318=)SNV Likely benign 799196 X:149818275-149818275 X:150649802-150649802
192 MTM1 NM_000252.3(MTM1):c.1131C>T (p.Asp377=)SNV Likely benign 795674 X:149826371-149826371 X:150657898-150657898
193 MTM1 NM_000252.3(MTM1):c.1578C>T (p.Ala526=)SNV Likely benign 794124 X:149832016-149832016 X:150663543-150663543
194 MTM1 NM_000252.3(MTM1):c.64-9T>CSNV Likely benign 792253 X:149764953-149764953 X:150596489-150596489
195 MTM1 NM_000252.3(MTM1):c.1692C>T (p.Arg564=)SNV Likely benign 772357 X:149839948-149839948 X:150671475-150671475
196 MTM1 NM_000252.3(MTM1):c.1376A>G (p.Asn459Ser)SNV Likely benign 744143 X:149828866-149828866 X:150660393-150660393
197 MTM1 NM_000252.2(MTM1):c.423G>A (p.Ala141=)SNV Likely benign 530856 rs377311110 X:149787591-149787591 X:150619118-150619118
198 MTM1 NM_000252.2(MTM1):c.1119G>A (p.Val373=)SNV Likely benign 530857 rs941979306 X:149826359-149826359 X:150657886-150657886
199 MTM1 NM_000252.2(MTM1):c.232-7A>GSNV Likely benign 461697 rs373045797 X:149783055-149783055 X:150614582-150614582
200 MTM1 NM_000252.2(MTM1):c.1454C>T (p.Ala485Val)SNV Benign/Likely benign 461696 rs782137551 X:149828944-149828944 X:150660471-150660471
201 MTM1 NM_000252.2(MTM1):c.1468-10C>TSNV Benign/Likely benign 511442 rs782174623 X:149831896-149831896 X:150663423-150663423
202 MTM1 NM_000252.2(MTM1):c.63+7deldeletion Benign/Likely benign 511111 rs782222093 X:149761145-149761145 X:150592683-150592683
203 MTM1 NM_000252.3(MTM1):c.1260+3G>ASNV Benign/Likely benign 92669 rs222410 X:149826503-149826503 X:150658030-150658030
204 MTM1 NM_000252.2(MTM1):c.582C>T (p.Leu194=)SNV Benign/Likely benign 385140 rs367912069 X:149809795-149809795 X:150641322-150641322
205 MTM1 NM_000252.2(MTM1):c.422C>T (p.Ala141Val)SNV Benign/Likely benign 211534 rs140642341 X:149787590-149787590 X:150619117-150619117
206 MTM1 NM_000252.2(MTM1):c.339T>C (p.Cys113=)SNV Benign 285094 rs147644722 X:149783169-149783169 X:150614696-150614696
207 MTM1 NM_000252.2(MTM1):c.1702A>G (p.Ile568Val)SNV Benign 158952 rs587783807 X:149839958-149839958 X:150671485-150671485
208 MTM1 NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr)SNV Benign 744195 X:149839985-149839985 X:150671512-150671512
209 MTM1 NM_000252.3(MTM1):c.55A>C (p.Ile19Leu)SNV Benign 754352 X:149761131-149761131 X:150592669-150592669
210 MTM1 NM_000252.3(MTM1):c.230C>T (p.Thr77Met)SNV Benign 761400 X:149767149-149767149 X:150598685-150598685
211 MTM1 NM_000252.3(MTM1):c.1054-9_1054-6deldeletion Benign 770042 X:149826282-149826285 X:150657809-150657812
212 MTM1 NM_000252.3(MTM1):c.620G>A (p.Arg207His)SNV Benign 790970 X:149809833-149809833 X:150641360-150641360
213 MTM1 NM_000252.3(MTM1):c.615G>A (p.Pro205=)SNV Benign 717292 X:149809828-149809828 X:150641355-150641355
214 MTM1 NM_000252.3(MTM1):c.176T>C (p.Ile59Thr)SNV Benign 730829 X:149767095-149767095 X:150598631-150598631
215 MTM1 NM_000252.3(MTM1):c.546T>C (p.His182=)SNV Benign 724275 X:149809759-149809759 X:150641286-150641286
216 MTM1 NM_000252.3(MTM1):c.1213A>G (p.Ile405Val)SNV Benign 728125 X:149826453-149826453 X:150657980-150657980
217 MTM1 NM_000252.2(MTM1):c.136+9C>TSNV Benign 461695 rs191553188 X:149765043-149765043 X:150596579-150596579
218 MTM1 NM_000252.3(MTM1):c.1290C>T (p.Thr430=)SNV Benign 697843 X:149828166-149828166 X:150659693-150659693
219 MTM1 NM_000252.3(MTM1):c.1793A>G (p.His598Arg)SNV Benign 705101 X:149840049-149840049 X:150671576-150671576

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Centronuclear, X-Linked:

73 (showing 57, show less)
# Symbol AA change Variation ID SNP ID
1 MTM1 p.Arg69Cys VAR_006387 rs132630304
2 MTM1 p.Leu70Phe VAR_006388 rs587783809
3 MTM1 p.Leu87Pro VAR_006389 rs587783816
4 MTM1 p.Arg184Gly VAR_006390 rs587783835
5 MTM1 p.Asn189Ser VAR_006391 rs132630302
6 MTM1 p.Tyr198Asn VAR_006392
7 MTM1 p.Pro205Leu VAR_006393 rs587783841
8 MTM1 p.Ser229Pro VAR_006394
9 MTM1 p.Arg241Cys VAR_006395 rs132630305
10 MTM1 p.Arg241Leu VAR_006396
11 MTM1 p.Met317Arg VAR_006397
12 MTM1 p.Ser376Asn VAR_006398
13 MTM1 p.Gly378Arg VAR_006399 rs587783755
14 MTM1 p.Tyr397Cys VAR_006400 rs132630303
15 MTM1 p.Gly402Ala VAR_006401 rs587783762
16 MTM1 p.Glu404Lys VAR_006402 rs781933660
17 MTM1 p.Leu406Pro VAR_006403
18 MTM1 p.Arg421Gln VAR_006404 rs587783772
19 MTM1 p.Asp431Asn VAR_006406 rs886044782
20 MTM1 p.Asp433Asn VAR_006407 rs886044783
21 MTM1 p.His469Pro VAR_006408
22 MTM1 p.Trp499Arg VAR_006409 rs587783801
23 MTM1 p.Pro179Ser VAR_009217 rs587783832
24 MTM1 p.Ile225Thr VAR_009218
25 MTM1 p.Ile264Ser VAR_009219 rs587783856
26 MTM1 p.Lys510Asn VAR_009222
27 MTM1 p.Val49Phe VAR_018227 rs587783796
28 MTM1 p.Tyr68Asp VAR_018228
29 MTM1 p.Arg69Pro VAR_018229
30 MTM1 p.Arg69Ser VAR_018230
31 MTM1 p.Glu157Lys VAR_018231 rs132630307
32 MTM1 p.Asn180Lys VAR_018232
33 MTM1 p.Arg184Leu VAR_018233
34 MTM1 p.Thr186Ile VAR_018234 rs587783836
35 MTM1 p.Thr197Ile VAR_018235
36 MTM1 p.Pro199Ser VAR_018236
37 MTM1 p.Leu202Ser VAR_018237
38 MTM1 p.Pro226Thr VAR_018238 rs587783848
39 MTM1 p.Val227Met VAR_018239 rs587783850
40 MTM1 p.Leu228Pro VAR_018240 rs587783851
41 MTM1 p.Trp230Cys VAR_018241
42 MTM1 p.His232Arg VAR_018242
43 MTM1 p.Ala279Gly VAR_018243
44 MTM1 p.Trp346Cys VAR_018244
45 MTM1 p.Trp346Ser VAR_018245
46 MTM1 p.Val364Gly VAR_018246
47 MTM1 p.His374Asp VAR_018247 rs587783754
48 MTM1 p.Gly378Glu VAR_018248
49 MTM1 p.Ala389Asp VAR_018249
50 MTM1 p.Leu391Pro VAR_018250
51 MTM1 p.Gly402Arg VAR_018251
52 MTM1 p.Gly402Val VAR_018252
53 MTM1 p.Trp411Cys VAR_018253 rs587783764
54 MTM1 p.Cys444Tyr VAR_018254
55 MTM1 p.Leu470Pro VAR_018255
56 MTM1 p.Asn481Tyr VAR_018256
57 MTM1 p.Ser387Tyr VAR_068846 rs587783759

Expression for Myopathy, Centronuclear, X-Linked

Search GEO for disease gene expression data for Myopathy, Centronuclear, X-Linked.

Pathways for Myopathy, Centronuclear, X-Linked

Pathways related to Myopathy, Centronuclear, X-Linked according to GeneCards Suite gene sharing:

(showing 6, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 PIKFYVE PIK3C2B MTMR8 MTMR6 MTMR4 MTMR3
2
Show member pathways
12.54 PIKFYVE PIK3C2B MTMR6 MTMR4 MTMR3 MTMR2
3
Show member pathways
12.22 PIKFYVE PIK3C2B MTMR8 MTMR6 MTMR4 MTMR3
4 11.68 MTMR4 MTMR3 MTMR14
5
Show member pathways
11.54 PIKFYVE PIK3C2B MTMR6 MTMR4 MTMR3 MTMR2
6 10.62 MTMR3 MTMR14

GO Terms for Myopathy, Centronuclear, X-Linked

Cellular components related to Myopathy, Centronuclear, X-Linked according to GeneCards Suite gene sharing:

(showing 8, show less)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.27 SBF2 SBF1 RYR1 PIK3C2B MTMR9 MTMR8
2 cell projection GO:0042995 9.91 SBF2 MTMR9 MTMR6 MTMR2 MTM1 DNM2
3 cytosol GO:0005829 9.86 SBF2 SBF1 PIKFYVE PIK3C2B MTMR9 MTMR8
4 endosome GO:0005768 9.8 SBF2 PIKFYVE MTMR4 MTMR2 MTM1 DNM2
5 perinuclear region of cytoplasm GO:0048471 9.76 SBF2 SBF1 PIKFYVE MTMR9 MTMR6 MTMR2
6 membrane GO:0016020 9.6 SBF2 SBF1 RYR1 PIKFYVE PIK3C2B MTMR9
7 ruffle membrane GO:0032587 9.58 MTMR9 MTMR6 DNM2
8 I band GO:0031674 9.5 RYR1 MTM1 BIN1

Biological processes related to Myopathy, Centronuclear, X-Linked according to GeneCards Suite gene sharing:

(showing 15, show less)
# Name GO ID Score Top Affiliating Genes
1 dephosphorylation GO:0016311 9.92 MTMR8 MTMR6 MTMR4 MTMR3 MTMR2 MTMR14
2 lipid metabolic process GO:0006629 9.91 MTMR6 MTMR3 MTMR2 MTMR1 MTM1 HACD1
3 protein dephosphorylation GO:0006470 9.85 SBF1 MTMR6 MTMR4 MTMR3 MTMR2 MTM1
4 endocytosis GO:0006897 9.8 MTMR9 MTMR6 DNM2 BIN1
5 peptidyl-tyrosine dephosphorylation GO:0035335 9.76 MTMR8 MTMR6 MTMR4 MTMR3 MTMR2 MTMR14
6 macroautophagy GO:0016236 9.69 PIK3C2B MTMR3 MTMR14
7 regulation of autophagy GO:0010506 9.65 MTMR8 MTMR4 MTMR3
8 regulation of phosphatidylinositol dephosphorylation GO:0060304 9.65 MTMR9 MTMR4 MTMR3 MTMR2 MTMR1
9 phosphatidylinositol dephosphorylation GO:0046856 9.61 MTMR9 MTMR8 MTMR6 MTMR4 MTMR3 MTMR2
10 phosphatidylinositol metabolic process GO:0046488 9.55 PIKFYVE MTMR2
11 regulation of autophagosome assembly GO:2000785 9.54 PIKFYVE MTMR3
12 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.52 PIKFYVE PIK3C2B
13 myelin assembly GO:0032288 9.46 PIKFYVE MTMR2
14 phosphatidylinositol biosynthetic process GO:0006661 9.44 SBF1 PIKFYVE PIK3C2B MTMR9 MTMR8 MTMR6
15 phosphatidylinositol 5-phosphate metabolic process GO:1904562 9.4 PIKFYVE MTMR3

Molecular functions related to Myopathy, Centronuclear, X-Linked according to GeneCards Suite gene sharing:

(showing 12, show less)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10.1 MTMR8 MTMR6 MTMR4 MTMR3 MTMR2 MTMR14
2 phosphatase activity GO:0016791 9.77 SBF1 MTMR4 MTMR2 MTMR1 MTM1
3 protein tyrosine phosphatase activity GO:0004725 9.76 MTMR8 MTMR6 MTMR4 MTMR3 MTMR2 MTMR14
4 phosphoprotein phosphatase activity GO:0004721 9.69 MTMR4 MTMR3 MTM1
5 phosphatidylinositol binding GO:0035091 9.67 SBF2 PIK3C2B MTM1
6 protein phosphatase binding GO:0019903 9.65 MTMR9 MTMR4 MTMR3
7 protein serine/threonine phosphatase activity GO:0004722 9.63 MTMR6 MTMR4 MTMR3
8 phosphatase regulator activity GO:0019208 9.5 SBF2 SBF1 MTMR12
9 phosphatidylinositol-3,5-bisphosphate phosphatase activity GO:0106018 9.43 MTMR8 MTMR6
10 phosphatidylinositol phosphate phosphatase activity GO:0052866 9.43 MTMR6 MTMR2 MTMR1
11 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 9.43 MTMR8 MTMR4 MTMR3 MTMR2 MTMR1 MTM1
12 phosphatidylinositol-3-phosphatase activity GO:0004438 9.32 MTMR9 MTMR8 MTMR6 MTMR4 MTMR3 MTMR2

Sources for Myopathy, Centronuclear, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....