CNMX
MCID: MYP136
MIFTS: 58

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 57 72 39
X-Linked Myotubular Myopathy 12 25 20 43 58 72
Xlmtm 12 25 20 43 58 72
X-Linked Centronuclear Myopathy 25 20 43 58 6
Xlcnm 12 25 20 58
Cnmx 57 12 72
Mtm1 57 12 72
Centronuclear Myopathy X-Linked 12 15
Myotubular Myopathy, X-Linked 57 13
Myotubular Myopathy 1 57 12
Mtmx 57 43
Myotubular Myopathy, X-Linked; Mtmx; Xlmtm 57
Myotubular Myopathy 1; Mtm1 57
Myotubular Myopathy Type 1 72
Myotubular Myopathy 25
Xmtm 43
Mtm 25
Cnm 43

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®:

57 (Updated 05-Apr-2021)
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:

25
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

MedlinePlus Genetics : 43 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 batten-turner congenital myopathy and tooth disease. An important gene associated with Myopathy, Centronuclear, X-Linked is MTM1 (Myotubularin 1), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include eye, skeletal muscle and liver, and related phenotypes are scoliosis and ptosis

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

GARD : 20 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 : 72 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:

(show top 50) (show all 138)
# Related Disease Score Top Affiliating Genes
1 batten-turner congenital myopathy 31.9 RYR1 MTM1 DNM2
2 tooth disease 31.7 SBF2 SBF1 MTMR2 MTM1 DNM2
3 peliosis hepatis 31.7 MTM1 DNM2
4 ptosis 31.7 RYR1 MTMR14 MTM1 DNM2 BIN1
5 myopathy, centronuclear, 1 31.6 RYR1 MTMR14 MTM1 DNM2 BIN1
6 charcot-marie-tooth disease, axonal, type 2e 31.6 SBF2 SBF1 MTMR2 MTM1 DNM2
7 early-onset glaucoma 31.6 SBF2 SBF1 MTMR2 MTM1
8 ocular motility disease 31.6 RYR1 MTM1 DNM2
9 corneal dystrophy, fleck 31.5 SBF2 PIKFYVE MTMR2 MTM1
10 myopathy, centronuclear, 2 31.5 RYR1 MTM1 DNM2 BIN1
11 charcot-marie-tooth disease, dominant intermediate b 31.5 SBF2 MTMR2 MTMR14 MTM1 DNM2
12 neuromuscular disease 31.4 SBF2 SBF1 RYR1 PIKFYVE MTMR2 MTM1
13 charcot-marie-tooth disease 31.4 SBF2 SBF1 PIKFYVE MTMR6 MTMR2 MTMR1
14 charcot-marie-tooth disease, type 4b1 31.4 SBF2 SBF1 PIKFYVE MTMR2 MTMR1 MTM1
15 congenital fiber-type disproportion 31.3 RYR1 MTM1 HACD1 DNM2 BIN1
16 charcot-marie-tooth disease, type 4b3 31.2 SBF2 SBF1 PIKFYVE MTMR3 MTMR2 MTM1
17 charcot-marie-tooth disease, type 4b2 31.1 SBF2 SBF1 PIKFYVE MTMR2 MTMR14 MTMR12
18 myotubular myopathy with abnormal genital development 30.4 MTM1 MAMLD1
19 centronuclear myopathy 30.1 SBF2 SBF1 RYR1 PIKFYVE MTMR8 MTMR6
20 peripheral nervous system disease 29.9 SBF2 RYR1 MTMR2 DNM2
21 myopathy 29.2 SBF1 RYR1 MTMR3 MTMR2 MTMR14 MTMR1
22 polyhydramnios 11.0
23 multiple pterygium syndrome, escobar variant 11.0
24 spinal muscular atrophy type 0 11.0
25 spinal muscular atrophy 11.0
26 dilated cardiomyopathy 11.0
27 sensory peripheral neuropathy 11.0
28 respiratory failure 10.9
29 muscular disease 10.9
30 inflammatory bowel disease 8 10.8
31 inflammatory bowel disease 21 10.8
32 endocardium disease 10.8
33 respiratory system disease 10.8
34 suppurative periapical periodontitis 10.8
35 congenital myasthenic syndrome 10.8
36 brachial plexus neuritis 10.8
37 congenital structural myopathy 10.8
38 muscle tissue disease 10.8
39 hypotonia 10.5
40 myotonic dystrophy 10.4
41 scoliosis 10.4
42 dental caries 10.4
43 charcot-marie-tooth disease intermediate type 10.3 SBF2 MTMR2 DNM2
44 infective endocarditis 10.3
45 endocarditis 10.3
46 charcot-marie-tooth disease, dominant intermediate e 10.3 SBF2 MTMR2
47 charcot-marie-tooth disease, type 4a 10.3 SBF2 MTMR2 DNM2
48 charcot-marie-tooth disease, axonal, type 2b 10.3 SBF2 MTMR2 DNM2
49 charcot-marie-tooth disease, axonal, type 2j 10.3 SBF2 MTMR2
50 charcot-marie-tooth disease, demyelinating, type 1f 10.3 SBF2 SBF1 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 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
2 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
3 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
4 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
5 emg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0003457
6 mask-like facies 58 31 frequent (33%) Frequent (79-30%) HP:0000298
7 atrioventricular block 58 31 frequent (33%) Frequent (79-30%) HP:0001678
8 areflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001284
9 cavernous hemangioma 58 31 frequent (33%) Frequent (79-30%) HP:0001048
10 external ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000544
11 head tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002346
12 respiratory failure requiring assisted ventilation 58 31 frequent (33%) Frequent (79-30%) HP:0004887
13 seizure 31 frequent (33%) HP:0001250
14 hypotonia 31 frequent (33%) HP:0001252
15 macrocephaly 31 HP:0000256
16 seizures 58 Frequent (79-30%)
17 facial palsy 31 HP:0010628
18 high palate 31 HP:0000218
19 hydrocephalus 31 HP:0000238
20 muscular hypotonia 58 Frequent (79-30%)
21 flexion contracture 31 HP:0001371
22 cryptorchidism 31 HP:0000028
23 neonatal respiratory distress 31 HP:0002643
24 arachnodactyly 31 HP:0001166
25 narrow face 31 HP:0000275
26 polyhydramnios 31 HP:0001561
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 generalized muscle weakness 31 HP:0003324
34 hypokinesia 31 HP:0002375
35 decreased liver function 31 HP:0001410
36 neck muscle weakness 31 HP:0000467
37 diaphragmatic eventration 31 HP:0009110
38 birth length greater than 97th percentile 31 HP:0003517

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.09 MTMR4 PIK3C2B
2 Decreased viability GR00055-A-2 10.09 MTMR4 PIK3C2B
3 Decreased viability GR00173-A 10.09 MTMR12
4 Decreased viability GR00221-A-3 10.09 PIK3C2B
5 Decreased viability GR00221-A-4 10.09 PIK3C2B
6 Decreased viability GR00249-S 10.09 CMTM1 MTMR8 PIKFYVE RYR1
7 Decreased viability GR00386-A-1 10.09 MTM1 MTMR12
8 Decreased viability GR00402-S-2 10.09 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:

46
# 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

Interventional clinical trials:

(show all 12)
# 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 A Phase 1/2, Multicenter, Open-label, Dose-confirmation Trial to Evaluate the Safety and Preliminary Efficacy of DYN101 in Participants 2 to 17 Years of Age With Centronuclear Myopathy Caused by Mutations in MTM1 or DNM2 Not yet recruiting NCT04743557 Phase 1, Phase 2 DYN101
5 Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM) Completed NCT02453152
6 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM) Completed NCT02057705
7 The RECENSUS Study: A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM) Completed NCT02231697
8 INCEPTUS: A Prospective, Non-Interventional Clinical Assessment Study in X Linked Myotubular Myopathy (XLMTM) Subjects Aged 3 Years and Younger Completed NCT02704273
9 Prospective Study of Adverse Event Rates in Males With X-Linked Myotubular Myopathy Completed NCT01840657
10 Myotubular Myopathy Genetic Testing Study Completed NCT01817946
11 Myotubular and Centronuclear Myopathy Patient Registry Recruiting NCT04064307
12 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies Recruiting NCT03351270

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
Eye, Skeletal Muscle, Liver

Publications for Myopathy, Centronuclear, X-Linked

Articles related to Myopathy, Centronuclear, X-Linked:

(show top 50) (show all 190)
# Title Authors PMID Year
1
MTM1 mutations in X-linked myotubular myopathy. 25 6 61 57
10790201 2000
2
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. 61 6 25 57
9305655 1997
3
X-linked myotubular myopathy--a long-term follow-up study. 25 57 6
10726846 1998
4
Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. 6 25 57
9285787 1997
5
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. 6 57 25
8640223 1996
6
Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations. 61 57 6
11552027 2001
7
A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy. 57 6 61
10714588 2000
8
Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy. 57 6 61
10502779 1999
9
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 57 61
9450905 1998
10
Genetic linkage heterogeneity in myotubular myopathy. 61 6 57
7611280 1995
11
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues. 6 25 61
28685322 2017
12
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers. 61 25 6
27017278 2016
13
Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations. 25 6 61
20434914 2010
14
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. 61 6 25
19084976 2009
15
Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1. 25 6 61
17005396 2006
16
Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations. 6 57
15883335 2005
17
X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation. 6 57
12707446 2003
18
Diagnosis of X-linked myotubular myopathy by detection of myotubularin. 61 25 57
11456308 2001
19
Germline mosaicism in X-linked myotubular myopathy. 25 57 61
10466421 1999
20
A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy. 6 57
9199578 1997
21
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. 6 25
29567349 2018
22
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy. 25 57
24569376 2014
23
Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice. 6 25
23071445 2012
24
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. 25 6
21135508 2011
25
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. 25 57
19197364 2009
26
Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism. 25 6
15725586 2005
27
X-linked myotubular myopathy in a family with three adult survivors. 6 25
12859411 2003
28
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. 25 6
12522554 2003
29
The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles. 6 25
12118066 2002
30
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. 6 25
11793470 2002
31
Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. 6 25
10900271 2000
32
Medical complications in long-term survivors with X-linked myotubular myopathy. 57 25
9931531 1999
33
The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case. 6 25
10449925 1999
34
Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity. 25 57
9541111 1998
35
Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region. 25 57
7726166 1995
36
Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle. 25 57
2357647 1990
37
Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy. 6 61
30884204 2019
38
Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis. 61 6
26338224 2016
39
Extensive morphological and immunohistochemical characterization in myotubular myopathy. 61 6
24381816 2013
40
Gene expression analyses in X-linked myotubular myopathy. 61 57
16157907 2005
41
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. 61 57
12391329 2002
42
Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC). 61 6
12031625 2002
43
Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother. 61 57
10323249 1999
44
Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients. 61 6
10063835 1999
45
X-linked myotubular myopathy: clinical observations in ten additional cases. 57 61
8588581 1995
46
The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28. 57 61
7881289 1994
47
X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. 61 57
2352256 1990
48
X-linked recessive myotubular myopathy: II. Muscle morphology and human myogenesis. 61 57
6542063 1984
49
Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants. 6
30047259 2018
50
A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study. 61 25
29149770 2018

Variations for Myopathy, Centronuclear, X-Linked

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

6 (show top 50) (show all 247)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNM2 NM_004945.3(DNM2):c.1844C>G (p.Ser615Trp) SNV Pathogenic 7286 rs121909095 GRCh37: 19:10934538-10934538
GRCh38: 19:10823862-10823862
2 MTM1 NM_000252.2(MTM1):c.566A>G (p.Asn189Ser) SNV Pathogenic 11053 rs132630302 GRCh37: X:149809779-149809779
GRCh38: X:150641306-150641306
3 MTM1 NM_000252.2(MTM1):c.1190A>G (p.Tyr397Cys) SNV Pathogenic 11054 rs132630303 GRCh37: X:149826430-149826430
GRCh38: X:150657957-150657957
4 MTM1 NM_000252.2(MTM1):c.205C>T (p.Arg69Cys) SNV Pathogenic 11055 rs132630304 GRCh37: X:149767124-149767124
GRCh38: X:150598660-150598660
5 MTM1 NM_000252.2(MTM1):c.141_144del (p.Glu48fs) Deletion Pathogenic 11057 rs587783791 GRCh37: X:149767058-149767061
GRCh38: X:150598594-150598597
6 MTM1 NM_000252.2(MTM1):c.670C>T (p.Arg224Ter) SNV Pathogenic 11060 rs132630306 GRCh37: X:149809883-149809883
GRCh38: X:150641410-150641410
7 MTM1 NM_000252.2(MTM1):c.605del (p.Leu202fs) Deletion Pathogenic 11061 rs672601325 GRCh37: X:149809815-149809815
GRCh38: X:150641342-150641342
8 MTM1 NM_000252.2(MTM1):c.469G>A (p.Glu157Lys) SNV Pathogenic 11062 rs132630307 GRCh37: X:149807440-149807440
GRCh38: X:150638967-150638967
9 MTM1 NM_000252.2(MTM1):c.1053+1G>C SNV Pathogenic 158893 rs587783751 GRCh37: X:149818375-149818375
GRCh38: X:150649902-150649902
10 MTM1 NM_000252.2(MTM1):c.1088_1089del (p.Lys363fs) Deletion Pathogenic 158894 rs587783752 GRCh37: X:149826327-149826328
GRCh38: X:150657854-150657855
11 MTM1 NM_000252.2(MTM1):c.1120C>G (p.His374Asp) SNV Pathogenic 158896 rs587783754 GRCh37: X:149826360-149826360
GRCh38: X:150657887-150657887
12 MTM1 NM_000252.2(MTM1):c.1132G>A (p.Gly378Arg) SNV Pathogenic 158897 rs587783755 GRCh37: X:149826372-149826372
GRCh38: X:150657899-150657899
13 MTM1 NM_000252.2(MTM1):c.1136G>A (p.Trp379Ter) SNV Pathogenic 158898 rs587783756 GRCh37: X:149826376-149826376
GRCh38: X:150657903-150657903
14 MTM1 NM_000252.2(MTM1):c.1137G>A (p.Trp379Ter) SNV Pathogenic 158899 rs587783757 GRCh37: X:149826377-149826377
GRCh38: X:150657904-150657904
15 MTM1 NM_000252.2(MTM1):c.1139A>T (p.Asp380Val) SNV Pathogenic 158900 rs587783758 GRCh37: X:149826379-149826379
GRCh38: X:150657906-150657906
16 MTM1 NM_000252.2(MTM1):c.1160C>A (p.Ser387Tyr) SNV Pathogenic 158901 rs587783759 GRCh37: X:149826400-149826400
GRCh38: X:150657927-150657927
17 MTM1 NM_000252.2(MTM1):c.1015dup (p.Ser339fs) Duplication Pathogenic 211524 rs797045709 GRCh37: X:149818335-149818336
GRCh38: X:150649862-150649863
18 MTM1 NM_000252.2(MTM1):c.1283del (p.Asn428fs) Deletion Pathogenic 211527 rs797045712 GRCh37: X:149828155-149828155
GRCh38: X:150659682-150659682
19 MTM1 NM_000252.2(MTM1):c.419dup (p.Tyr140Ter) Duplication Pathogenic 211533 rs797045718 GRCh37: X:149787586-149787587
GRCh38: X:150619113-150619114
20 MTM1 NM_000252.2(MTM1):c.1349_1353+4del Deletion Pathogenic 211530 rs797045715 GRCh37: X:149828223-149828231
GRCh38: X:150659750-150659758
21 MTM1 NM_000252.2(MTM1):c.969dup (p.Val324fs) Duplication Pathogenic 211539 rs587783865 GRCh37: X:149818283-149818284
GRCh38: X:150649810-150649811
22 MTM1 NM_000252.2(MTM1):c.808_811del (p.Gln270fs) Deletion Pathogenic 211536 rs797045720 GRCh37: X:149814282-149814285
GRCh38: X:150645809-150645812
23 MTM1 NM_000252.2(MTM1):c.1306_1308del (p.Pro436del) Deletion Pathogenic 211528 rs797045713 GRCh37: X:149828180-149828182
GRCh38: X:150659707-150659709
24 MTM1 NM_000252.2(MTM1):c.96dup (p.Glu33Ter) Duplication Pathogenic 211540 rs797045724 GRCh37: X:149764993-149764994
GRCh38: X:150596529-150596530
25 MTM1 NM_000252.2(MTM1):c.867_867+1dup Duplication Pathogenic 211537 rs797045721 GRCh37: X:149814343-149814344
GRCh38: X:150645870-150645871
26 MTM1 NM_000252.2(MTM1):c.130dup (p.Ile44fs) Duplication Pathogenic 211529 rs797045714 GRCh37: X:149765026-149765027
GRCh38: X:150596562-150596563
27 MTM1 NM_000252.2(MTM1):c.1227_1228delinsT (p.Lys409fs) Indel Pathogenic 211526 rs797045711 GRCh37: X:149826467-149826468
GRCh38: X:150657994-150657995
28 MTM1 NM_000252.2(MTM1):c.549dup (p.Arg184fs) Duplication Pathogenic 211535 rs797045719 GRCh37: X:149809760-149809761
GRCh38: X:150641287-150641288
29 MTM1 NM_000252.2(MTM1):c.949dup (p.Met317fs) Duplication Pathogenic 211538 rs797045722 GRCh37: X:149818269-149818270
GRCh38: X:150649796-150649797
30 MTM1 NM_000252.2(MTM1):c.70C>T (p.Arg24Ter) SNV Pathogenic 92678 rs398123275 GRCh37: X:149764968-149764968
GRCh38: X:150596504-150596504
31 MTM1 NM_000252.2(MTM1):c.226G>T (p.Glu76Ter) SNV Pathogenic 369659 rs1057516031 GRCh37: X:149767145-149767145
GRCh38: X:150598681-150598681
32 MTM1 NM_000252.2(MTM1):c.1178dup (p.Leu393fs) Duplication Pathogenic 435902 rs1557414513 GRCh37: X:149826416-149826417
GRCh38: X:150657943-150657944
33 MTM1 NM_000252.2(MTM1):c.342+1G>A SNV Pathogenic 435903 rs1557413092 GRCh37: X:149783173-149783173
GRCh38: X:150614700-150614700
34 MTM1 NM_000252.2(MTM1):c.465del (p.Asn155fs) Deletion Pathogenic 435901 rs1557413783 GRCh37: X:149807436-149807436
GRCh38: X:150638963-150638963
35 MTM1 NM_000252.2(MTM1):c.1191T>G (p.Tyr397Ter) SNV Pathogenic 158903 rs587783761 GRCh37: X:149826431-149826431
GRCh38: X:150657958-150657958
36 MTM1 NM_000252.2(MTM1):c.1205G>C (p.Gly402Ala) SNV Pathogenic 158904 rs587783762 GRCh37: X:149826445-149826445
GRCh38: X:150657972-150657972
37 MTM1 NM_000252.2(MTM1):c.1232G>A (p.Trp411Ter) SNV Pathogenic 158905 rs587783763 GRCh37: X:149826472-149826472
GRCh38: X:150657999-150657999
38 MTM1 NM_000252.2(MTM1):c.1210G>A (p.Glu404Lys) SNV Pathogenic 530855 rs781933660 GRCh37: X:149826450-149826450
GRCh38: X:150657977-150657977
39 MTM1 NM_000252.2(MTM1):c.961_962del (p.Leu321fs) Deletion Pathogenic 159011 rs587783864 GRCh37: X:149818281-149818282
GRCh38: X:150649808-150649809
40 MTM1 NM_000252.2(MTM1):c.958T>C (p.Ser320Pro) SNV Pathogenic 159010 rs587783863 GRCh37: X:149818279-149818279
GRCh38: X:150649806-150649806
41 MTM1 NM_000252.2(MTM1):c.912del (p.Glu305fs) Deletion Pathogenic 159007 rs587783860 GRCh37: X:149818232-149818232
GRCh38: X:150649759-150649759
42 MTM1 NM_000252.2(MTM1):c.888_889del (p.Glu296_Ser297insTer) Deletion Pathogenic 159006 rs587783859 GRCh37: X:149818208-149818209
GRCh38: X:150649735-150649736
43 MTM1 NM_000252.2(MTM1):c.867+1G>A SNV Pathogenic 159005 rs587783858 GRCh37: X:149814345-149814345
GRCh38: X:150645872-150645872
44 MTM1 NM_000252.2(MTM1):c.85C>T (p.Arg29Ter) SNV Pathogenic 159004 rs587783857 GRCh37: X:149764983-149764983
GRCh38: X:150596519-150596519
45 MTM1 NM_000252.2(MTM1):c.791T>G (p.Ile264Ser) SNV Pathogenic 159003 rs587783856 GRCh37: X:149814268-149814268
GRCh38: X:150645795-150645795
46 MTM1 NM_000252.2(MTM1):c.779A>C (p.Tyr260Ser) SNV Pathogenic 159002 rs587783855 GRCh37: X:149814256-149814256
GRCh38: X:150645783-150645783
47 MTM1 NM_000252.2(MTM1):c.683T>C (p.Leu228Pro) SNV Pathogenic 158998 rs587783851 GRCh37: X:149814160-149814160
GRCh38: X:150645687-150645687
48 MTM1 NM_000252.2(MTM1):c.679G>A (p.Val227Met) SNV Pathogenic 158997 rs587783850 GRCh37: X:149814156-149814156
GRCh38: X:150645683-150645683
49 MTM1 NM_000252.2(MTM1):c.678+1G>A SNV Pathogenic 158996 rs587783849 GRCh37: X:149809892-149809892
GRCh38: X:150641419-150641419
50 MTM1 NM_000252.2(MTM1):c.664C>T (p.Arg222Ter) SNV Pathogenic 158994 rs587783847 GRCh37: X:149809877-149809877
GRCh38: X:150641404-150641404

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

72 (show top 50) (show all 57)
# 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 rs587783789
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

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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.27 SBF2 SBF1 RYR1 PIK3C2B MTMR9 MTMR8
2 membrane GO:0016020 10.11 SBF2 SBF1 RYR1 PIKFYVE PIK3C2B MTMR9
3 cell projection GO:0042995 9.91 SBF2 MTMR9 MTMR6 MTMR2 MTM1 DNM2
4 endosome GO:0005768 9.8 SBF2 PIKFYVE MTMR4 MTMR2 MTM1 DNM2
5 ruffle membrane GO:0032587 9.58 MTMR9 MTMR6 DNM2
6 perinuclear region of cytoplasm GO:0048471 9.56 SBF2 SBF1 PIKFYVE MTMR9 MTMR6 MTMR2
7 cytosol GO:0005829 9.53 SBF2 SBF1 PIKFYVE PIK3C2B MTMR9 MTMR8
8 I band GO:0031674 9.5 RYR1 MTM1 BIN1
9 vacuolar membrane GO:0005774 9.46 SBF2 MTMR2

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

(show all 15)
# 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 9.71 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 9.52 PIKFYVE MTMR3
12 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.51 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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10.09 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 protein serine/threonine phosphatase activity GO:0004722 9.67 MTMR6 MTMR4 MTMR3
6 phosphatidylinositol binding GO:0035091 9.65 SBF2 PIK3C2B MTM1
7 protein phosphatase binding GO:0019903 9.63 MTMR9 MTMR4 MTMR3
8 phosphatase regulator activity GO:0019208 9.5 SBF2 SBF1 MTMR12
9 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 9.5 MTMR8 MTMR6 MTMR4 MTMR3 MTMR2 MTMR1
10 phosphatidylinositol phosphate phosphatase activity GO:0052866 9.43 MTMR6 MTMR2 MTMR1
11 phosphatidylinositol-3,5-bisphosphate phosphatase activity GO:0106018 9.4 MTMR8 MTMR6
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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