CNMX
MCID: MYP136
MIFTS: 48

Myopathy, Centronuclear, X-Linked (CNMX)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Centronuclear, X-Linked

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

Name: Myopathy, Centronuclear, X-Linked 57 75
X-Linked Myotubular Myopathy 24 53 25 59 75
Xlmtm 24 53 25 59 75
X-Linked Centronuclear Myopathy 24 53 25 59
Xlcnm 24 53 59
Myotubular Myopathy, X-Linked 57 13
Cnmx 57 75
Mtmx 57 25
Mtm1 57 75
Myotubular Myopathy, X-Linked; Mtmx; Xlmtm 57
Myotubular Myopathy 1; Mtm1 57
Myotubular Myopathy Type 1 75
Myotubular Myopathy 1 57
Myotubular Myopathy 24
Xmtm 25
Mtm 24
Cnm 25

Characteristics:

Orphanet epidemiological data:

59
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
Miscellaneous:
usually fatal in infancy
some carrier females may manifest mild symptoms

Inheritance:
x-linked recessive


HPO:

32
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:



Summaries for Myopathy, Centronuclear, X-Linked

NIH Rare Diseases : 53 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.

MalaCards based summary : Myopathy, Centronuclear, X-Linked, also known as x-linked myotubular myopathy, is related to centronuclear myopathy and charcot-marie-tooth disease. An important gene associated with Myopathy, Centronuclear, X-Linked is MTM1 (Myotubularin 1). The drugs Bevacizumab and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, liver and testes, and related phenotypes are ptosis and seizures

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.

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 310400
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 all 45)
# Related Disease Score Top Affiliating Genes
1 centronuclear myopathy 32.1 DNM2 MTM1
2 charcot-marie-tooth disease 31.5 DNM2 MTM1
3 myopathy, congenital 31.5 DNM2 MTM1
4 charcot-marie-tooth disease, dominant intermediate b 31.4 DNM2 MTM1
5 brachial plexus neuritis 31.4 DNM2 MTM1
6 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 31.3 DNM2 MTM1
7 ptosis 31.2 DNM2 MTM1
8 muscular disease 31.1 DNM2 MTM1
9 peripheral nervous system disease 31.0 DNM2 MTM1
10 myopathy, centronuclear, 1 11.5
11 myopathy, centronuclear, 2 11.4
12 charcot-marie-tooth disease, type 4b1 11.1
13 charcot-marie-tooth disease, type 4b2 11.1
14 charcot-marie-tooth disease, axonal, type 2e 11.1
15 neuromuscular disease 11.1
16 chylothorax, congenital 11.1
17 charcot-marie-tooth disease, type 4b3 11.1
18 asphyxia neonatorum 11.1
19 endocardium disease 11.1
20 central core myopathy 11.1
21 muscle tissue disease 11.1
22 early-onset glaucoma 11.1
23 myotubular myopathy with abnormal genital development 10.9
24 myopathy 10.6
25 peliosis hepatis 10.3
26 muscle disorders 10.3
27 myotonic dystrophy 10.2
28 myotonia atrophica 10.2
29 gastric cancer 10.1
30 exocrine pancreatic insufficiency 10.1
31 dental caries 10.1
32 iga glomerulonephritis 10.1
33 cataract 10.1
34 spinal muscular atrophy 10.1
35 atrioventricular block 10.1
36 scoliosis 10.1
37 cardiac arrest 10.1
38 tooth disease 10.1
39 nemaline myopathy 10.1
40 craniopharyngioma 10.1
41 muscular atrophy 10.1
42 myotonia 10.1
43 muscle hypertrophy 10.0
44 respiratory failure 10.0
45 cholestasis 10.0

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

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
decreased liver function
fatal liver hemorrhage

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Abdomen Gastrointestinal:
pyloric stenosis

Head And Neck Eyes:
external ophthalmoplegia

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

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Head And Neck Neck:
neck muscle weakness

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

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

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

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
4 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
5 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
6 atrioventricular block 59 32 frequent (33%) Frequent (79-30%) HP:0001678
7 emg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0003457
8 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
9 cavernous hemangioma 59 32 frequent (33%) Frequent (79-30%) HP:0001048
10 mask-like facies 59 32 frequent (33%) Frequent (79-30%) HP:0000298
11 areflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001284
12 external ophthalmoplegia 59 32 frequent (33%) Frequent (79-30%) HP:0000544
13 head tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002346
14 respiratory failure requiring assisted ventilation 59 32 frequent (33%) Frequent (79-30%) HP:0004887
15 macrocephaly 32 HP:0000256
16 high palate 32 HP:0000218
17 hydrocephalus 32 HP:0000238
18 facial palsy 32 HP:0010628
19 flexion contracture 32 HP:0001371
20 generalized muscle weakness 32 HP:0003324
21 decreased liver function 32 HP:0001410
22 cryptorchidism 32 HP:0000028
23 arachnodactyly 32 HP:0001166
24 narrow face 32 HP:0000275
25 respiratory failure 32 HP:0002878
26 polyhydramnios 32 HP:0001561
27 long face 32 HP:0000276
28 pyloric stenosis 32 HP:0002021
29 decreased fetal movement 32 HP:0001558
30 hypokinesia 32 HP:0002375
31 severe muscular hypotonia 32 HP:0006829
32 neck muscle weakness 32 HP:0000467
33 neonatal respiratory distress 32 HP:0002643
34 diaphragmatic eventration 32 HP:0009110
35 birth length greater than 97th percentile 32 HP:0003517
36 slender toe 32 HP:0011308

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.4 MTM1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.4 DNM2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.4 MTM1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.4 DNM2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.4 DNM2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.4 MTM1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.4 MTM1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.4 MTM1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.4 DNM2 MTM1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.4 DNM2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.4 DNM2

Drugs & Therapeutics for Myopathy, Centronuclear, X-Linked

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 1 216974-75-3
2 Immunoglobulins Phase 1
3 Antibodies Phase 1
4 Angiogenesis Modulating Agents Phase 1
5 Angiogenesis Inhibitors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Gene Transfer Clinical Study in X-Linked Myotubular Myopathy Recruiting NCT03199469 Phase 1, Phase 2
2 Hypofractionated Stereotactic Radiotherapy With Bevacizumab in the Treatment of Recurrent Malignant Glioma Active, not recruiting NCT01392209 Phase 1
3 Myotubular Myopathy Genetic Testing Study Completed NCT01817946
4 Myotubular Myopathy Event Study Completed NCT01840657
5 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM) Completed NCT02057705
6 Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM) Recruiting NCT02453152
7 A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM) Recruiting NCT02231697
8 Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies Recruiting NCT03351270 Not Applicable
9 A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects Active, not recruiting NCT02704273

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:

41
Skeletal Muscle, Liver, Testes, Eye

Publications for Myopathy, Centronuclear, X-Linked

Articles related to Myopathy, Centronuclear, X-Linked:

(show top 50) (show all 95)
# Title Authors Year
1
Successful Management of a Patient With X-Linked Myotubular Myopathy for Scoliosis Surgery and Previous Cardiac Arrest After Prone Positioning: A Case Report. ( 29634567 )
2018
2
Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy. ( 30451843 )
2018
3
Successful use of non-invasive positive pressure ventilation in a patient with the severe form of X-linked myotubular myopathy. ( 29343419 )
2018
4
A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study. ( 29149770 )
2018
5
A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy. ( 28852708 )
2017
6
Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations. ( 28007904 )
2017
7
Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male. ( 28622964 )
2017
8
X-linked myotubular myopathy: Living longer and awaiting treatment. ( 28842443 )
2017
9
A natural history study of X-linked myotubular myopathy. ( 28842446 )
2017
10
Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy. ( 27155155 )
2016
11
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons. ( 26823526 )
2016
12
Erratum to 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. ( 26855959 )
2016
13
A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels. ( 26995067 )
2016
14
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons: Erratum. ( 27056095 )
2016
15
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. ( 26605308 )
2015
16
Syngeneic Myoblast Transplantation Improves Muscle Function in a Murine Model of X-Linked Myotubular Myopathy. ( 25197964 )
2015
17
Clinical phenotype of X-linked myotubular myopathy in Labrador Retriever puppies. ( 25581576 )
2015
18
X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene. ( 25664165 )
2015
19
Validity of a neurological scoring system for canine X-linked myotubular myopathy. ( 25970698 )
2015
20
Validity of a Neurological Scoring System for Canine X-Linked Myotubular Myopathy. ( 26086764 )
2015
21
Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X-linked myotubular myopathy. ( 24861988 )
2014
22
Gait characteristics in a canine model of X-linked myotubular myopathy. ( 25281397 )
2014
23
Fatal Hepatic Hemorrhage from Peliosis Hepatis with X-linked Myotubular Myopathy: A Case Report. ( 24172586 )
2013
24
Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations. ( 23346162 )
2013
25
Fatal hepatic hemorrhage by peliosis hepatis in X-linked myotubular myopathy: a case report. ( 24011703 )
2013
26
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. ( 23307925 )
2013
27
Predisposition to subdural hemorrhage in X-linked myotubular myopathy. ( 22520358 )
2012
28
A rapid immunohistochemical test to distinguish congenital myotonic dystrophy from X-linked myotubular myopathy. ( 22113158 )
2012
29
Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy. ( 22264517 )
2012
30
Muscle function in a canine model of X-linked myotubular myopathy. ( 22987702 )
2012
31
X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10. ( 22153990 )
2012
32
X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation. ( 21488203 )
2011
33
Identification of a mutation in the MTM1 gene, associated with X-linked myotubular myopathy, in a Greek family. ( 22435031 )
2011
34
Mutation studies in X-linked myotubular myopathy in three Indian families. ( 20358311 )
2010
35
Prenatal diagnosis of X-linked myotubular myopathy. ( 20063324 )
2010
36
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. ( 20682747 )
2010
37
[Unilateral presentation of X-linked myotubular myopathy (XLMTM) in two out of three female carriers in a family with no affected male]. ( 18358876 )
2008
38
X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child. ( 19129059 )
2008
39
X-linked myotubular myopathy and chylothorax. ( 18077167 )
2008
40
Underdiagnosis of X-linked myotubular myopathy and other forms of centronuclear myopathy. ( 17306534 )
2007
41
Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. ( 17537630 )
2007
42
X-linked myotubular myopathy: report of a case with novel mutation. ( 17621527 )
2007
43
Floppy infant caused by MTM1 mutation: a first genetically-confirmed X-linked myotubular myopathy patient in Thailand. ( 16583589 )
2006
44
Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1. ( 17005396 )
2006
45
X-linked myotubular myopathy: anesthetic management for muscle biopsy. ( 16430426 )
2006
46
Gene expression analyses in X-linked myotubular myopathy. ( 16157907 )
2005
47
X-linked myotubular myopathy: mutation R69C identified in a family with multiple neonatal deaths. ( 15811014 )
2005
48
Muscle biopsy without centrally located nuclei in a male child with mild X-linked myotubular myopathy. ( 16288675 )
2005
49
General anesthesia in an infant with X-linked myotubular myopathy. ( 15500500 )
2004
50
X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation. ( 12707446 )
2003

Variations for Myopathy, Centronuclear, X-Linked

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

75 (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
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

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

6 (show top 50) (show all 361)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNM2 NM_001005360.2(DNM2): c.1856C> T (p.Ser619Leu) single nucleotide variant Pathogenic rs121909095 GRCh37 Chromosome 19, 10934538: 10934538
2 DNM2 NM_001005360.2(DNM2): c.1856C> T (p.Ser619Leu) single nucleotide variant Pathogenic rs121909095 GRCh38 Chromosome 19, 10823862: 10823862
3 DNM2 NM_001005360.2(DNM2): c.1856C> G (p.Ser619Trp) single nucleotide variant Pathogenic rs121909095 GRCh37 Chromosome 19, 10934538: 10934538
4 DNM2 NM_001005360.2(DNM2): c.1856C> G (p.Ser619Trp) single nucleotide variant Pathogenic rs121909095 GRCh38 Chromosome 19, 10823862: 10823862
5 MTM1 NM_000252.2(MTM1): c.566A> G (p.Asn189Ser) single nucleotide variant Pathogenic rs132630302 GRCh37 Chromosome X, 149809779: 149809779
6 MTM1 NM_000252.2(MTM1): c.566A> G (p.Asn189Ser) single nucleotide variant Pathogenic rs132630302 GRCh38 Chromosome X, 150641306: 150641306
7 MTM1 NM_000252.2(MTM1): c.1190A> G (p.Tyr397Cys) single nucleotide variant Pathogenic rs132630303 GRCh37 Chromosome X, 149826430: 149826430
8 MTM1 NM_000252.2(MTM1): c.1190A> G (p.Tyr397Cys) single nucleotide variant Pathogenic rs132630303 GRCh38 Chromosome X, 150657957: 150657957
9 MTM1 NM_000252.2(MTM1): c.205C> T (p.Arg69Cys) single nucleotide variant Pathogenic rs132630304 GRCh37 Chromosome X, 149767124: 149767124
10 MTM1 NM_000252.2(MTM1): c.205C> T (p.Arg69Cys) single nucleotide variant Pathogenic rs132630304 GRCh38 Chromosome X, 150598660: 150598660
11 MTM1 NM_000252.2(MTM1): c.679-1G> A single nucleotide variant Pathogenic rs672601324 GRCh37 Chromosome X, 149814155: 149814155
12 MTM1 NM_000252.2(MTM1): c.679-1G> A single nucleotide variant Pathogenic rs672601324 GRCh38 Chromosome X, 150645682: 150645682
13 MTM1 NM_000252.2(MTM1): c.141_144delAGAA (p.Glu48Leufs) deletion Pathogenic rs587783791 GRCh37 Chromosome X, 149767060: 149767063
14 MTM1 NM_000252.2(MTM1): c.141_144delAGAA (p.Glu48Leufs) deletion Pathogenic rs587783791 GRCh38 Chromosome X, 150598596: 150598599
15 MTM1 NM_000252.2(MTM1): c.1261-10A> G single nucleotide variant Pathogenic rs397518445 GRCh37 Chromosome X, 149828127: 149828127
16 MTM1 NM_000252.2(MTM1): c.1261-10A> G single nucleotide variant Pathogenic rs397518445 GRCh38 Chromosome X, 150659654: 150659654
17 MTM1 NM_000252.2(MTM1): c.721C> T (p.Arg241Cys) single nucleotide variant Pathogenic rs132630305 GRCh37 Chromosome X, 149814198: 149814198
18 MTM1 NM_000252.2(MTM1): c.721C> T (p.Arg241Cys) single nucleotide variant Pathogenic rs132630305 GRCh38 Chromosome X, 150645725: 150645725
19 MTM1 NM_000252.2(MTM1): c.670C> T (p.Arg224Ter) single nucleotide variant Pathogenic rs132630306 GRCh37 Chromosome X, 149809883: 149809883
20 MTM1 NM_000252.2(MTM1): c.670C> T (p.Arg224Ter) single nucleotide variant Pathogenic rs132630306 GRCh38 Chromosome X, 150641410: 150641410
21 MTM1 NM_000252.2(MTM1): c.605delT (p.Leu202Trpfs) deletion Pathogenic rs672601325 GRCh37 Chromosome X, 149809818: 149809818
22 MTM1 NM_000252.2(MTM1): c.605delT (p.Leu202Trpfs) deletion Pathogenic rs672601325 GRCh38 Chromosome X, 150641345: 150641345
23 MTM1 NM_000252.2(MTM1): c.469G> A (p.Glu157Lys) single nucleotide variant Pathogenic rs132630307 GRCh37 Chromosome X, 149807440: 149807440
24 MTM1 NM_000252.2(MTM1): c.469G> A (p.Glu157Lys) single nucleotide variant Pathogenic rs132630307 GRCh38 Chromosome X, 150638967: 150638967
25 MTM1 NM_000252.2(MTM1): c.1040T> G (p.Leu347Ter) single nucleotide variant Pathogenic rs398123264 GRCh37 Chromosome X, 149818361: 149818361
26 MTM1 NM_000252.2(MTM1): c.1040T> G (p.Leu347Ter) single nucleotide variant Pathogenic rs398123264 GRCh38 Chromosome X, 150649888: 150649888
27 MTM1 NM_000252.2(MTM1): c.1260+3G> A single nucleotide variant Benign/Likely benign rs222410 GRCh37 Chromosome X, 149826503: 149826503
28 MTM1 NM_000252.2(MTM1): c.1260+3G> A single nucleotide variant Benign/Likely benign rs222410 GRCh38 Chromosome X, 150658030: 150658030
29 MTM1 NM_000252.2(MTM1): c.1306_1310dupCCTAT (p.Phe438Leufs) duplication Pathogenic rs398123267 GRCh37 Chromosome X, 149828182: 149828186
30 MTM1 NM_000252.2(MTM1): c.1306_1310dupCCTAT (p.Phe438Leufs) duplication Pathogenic rs398123267 GRCh38 Chromosome X, 150659709: 150659713
31 MTM1 NM_000252.2(MTM1): c.1357_1358delCC (p.Pro453Tyrfs) deletion Pathogenic rs398123268 GRCh37 Chromosome X, 149828847: 149828848
32 MTM1 NM_000252.2(MTM1): c.1357_1358delCC (p.Pro453Tyrfs) deletion Pathogenic rs398123268 GRCh38 Chromosome X, 150660374: 150660375
33 MTM1 NM_000252.2(MTM1): c.142_143delGA (p.Glu48Serfs) deletion Pathogenic rs398123270 GRCh37 Chromosome X, 149767061: 149767062
34 MTM1 NM_000252.2(MTM1): c.142_143delGA (p.Glu48Serfs) deletion Pathogenic rs398123270 GRCh38 Chromosome X, 150598597: 150598598
35 MTM1 NM_000252.2(MTM1): c.1644+1G> T single nucleotide variant Pathogenic rs398123272 GRCh37 Chromosome X, 149832083: 149832083
36 MTM1 NM_000252.2(MTM1): c.1644+1G> T single nucleotide variant Pathogenic rs398123272 GRCh38 Chromosome X, 150663610: 150663610
37 MTM1 NM_000252.2(MTM1): c.595_599delCCTGC (p.Pro199Serfs) deletion Pathogenic rs398123273 GRCh37 Chromosome X, 149809808: 149809812
38 MTM1 NM_000252.2(MTM1): c.595_599delCCTGC (p.Pro199Serfs) deletion Pathogenic rs398123273 GRCh38 Chromosome X, 150641335: 150641339
39 MTM1 NM_000252.2(MTM1): c.688T> C (p.Trp230Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs398123274 GRCh37 Chromosome X, 149814165: 149814165
40 MTM1 NM_000252.2(MTM1): c.688T> C (p.Trp230Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs398123274 GRCh38 Chromosome X, 150645692: 150645692
41 MTM1 NM_000252.2(MTM1): c.70C> T (p.Arg24Ter) single nucleotide variant Pathogenic rs398123275 GRCh37 Chromosome X, 149764968: 149764968
42 MTM1 NM_000252.2(MTM1): c.70C> T (p.Arg24Ter) single nucleotide variant Pathogenic rs398123275 GRCh38 Chromosome X, 150596504: 150596504
43 MTM1 NM_000252.2(MTM1): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs587783817 GRCh37 Chromosome X, 149761078: 149761078
44 MTM1 NM_000252.2(MTM1): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs587783817 GRCh38 Chromosome X, 150592616: 150592616
45 MTM1 NM_000252.2(MTM1): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587783823 GRCh37 Chromosome X, 149761079: 149761079
46 MTM1 NM_000252.2(MTM1): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587783823 GRCh38 Chromosome X, 150592617: 150592617
47 MTM1 NM_000252.2(MTM1): c.63+1G> A single nucleotide variant Pathogenic rs587783843 GRCh37 Chromosome X, 149761140: 149761140
48 MTM1 NM_000252.2(MTM1): c.63+1G> A single nucleotide variant Pathogenic rs587783843 GRCh38 Chromosome X, 150592678: 150592678
49 MTM1 NM_000252.2(MTM1): c.63+3A> T single nucleotide variant Likely pathogenic rs587783844 GRCh37 Chromosome X, 149761142: 149761142
50 MTM1 NM_000252.2(MTM1): c.63+3A> T single nucleotide variant Likely pathogenic rs587783844 GRCh38 Chromosome X, 150592680: 150592680

Expression for Myopathy, Centronuclear, X-Linked

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

Pathways for Myopathy, Centronuclear, X-Linked

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 cell projection GO:0042995 8.96 DNM2 MTM1
2 endosome GO:0005768 8.62 DNM2 MTM1

Sources for Myopathy, Centronuclear, X-Linked

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