CNMX
MCID: MYP136
MIFTS: 47

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 58 76 41
X-Linked Myotubular Myopathy 25 54 26 60 76
Xlmtm 54 26 60 76
X-Linked Centronuclear Myopathy 54 26 60
Myotubular Myopathy, X-Linked 58 13
Xlcnm 54 60
Cnmx 58 76
Mtmx 58 26
Mtm1 58 76
Myotubular Myopathy, X-Linked; Mtmx; Xlmtm 58
Myotubular Myopathy 1; Mtm1 58
Myotubular Myopathy Type 1 76
Myotubular Myopathy 1 58
Xmtm 26
Cnm 26

Characteristics:

Orphanet epidemiological data:

60
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:

58
Miscellaneous:
usually fatal in infancy
some carrier females may manifest mild symptoms

Inheritance:
x-linked recessive


HPO:

33
myopathy, centronuclear, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Myopathy, Centronuclear, X-Linked

NIH Rare Diseases : 54 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 Angiogenesis Inhibitors 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 : 26 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 : 76 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:

Related Diseases for Myopathy, Centronuclear, X-Linked

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:

60 33 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
2 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
3 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
4 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
5 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
6 atrioventricular block 60 33 frequent (33%) Frequent (79-30%) HP:0001678
7 emg abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0003457
8 skeletal muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003202
9 cavernous hemangioma 60 33 frequent (33%) Frequent (79-30%) HP:0001048
10 mask-like facies 60 33 frequent (33%) Frequent (79-30%) HP:0000298
11 areflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001284
12 external ophthalmoplegia 60 33 frequent (33%) Frequent (79-30%) HP:0000544
13 head tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002346
14 respiratory failure requiring assisted ventilation 60 33 frequent (33%) Frequent (79-30%) HP:0004887
15 macrocephaly 33 HP:0000256
16 high palate 33 HP:0000218
17 hydrocephalus 33 HP:0000238
18 facial palsy 33 HP:0010628
19 flexion contracture 33 HP:0001371
20 generalized muscle weakness 33 HP:0003324
21 decreased liver function 33 HP:0001410
22 cryptorchidism 33 HP:0000028
23 neonatal respiratory distress 33 HP:0002643
24 arachnodactyly 33 HP:0001166
25 narrow face 33 HP:0000275
26 respiratory failure 33 HP:0002878
27 polyhydramnios 33 HP:0001561
28 long face 33 HP:0000276
29 pyloric stenosis 33 HP:0002021
30 decreased fetal movement 33 HP:0001558
31 hypokinesia 33 HP:0002375
32 severe muscular hypotonia 33 HP:0006829
33 neck muscle weakness 33 HP:0000467
34 diaphragmatic eventration 33 HP:0009110
35 birth length greater than 97th percentile 33 HP:0003517
36 slender toe 33 HP:0011308

Symptoms via clinical synopsis from OMIM:

58
Abdomen Liver:
decreased liver function
fatal liver hemorrhage

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 Neck:
neck muscle weakness

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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Abdomen Gastrointestinal:
pyloric stenosis

Head And Neck Eyes:
external ophthalmoplegia

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.36 MTM1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.36 MTM1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.36 DNM2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.36 DNM2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.36 MTM1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.36 MTM1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.36 MTM1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.36 DNM2 MTM1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.36 DNM2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.36 DNM2

Drugs & Therapeutics for Myopathy, Centronuclear, X-Linked

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 1 216974-75-3
2 Angiogenesis Inhibitors Phase 1
3 Immunoglobulins Phase 1
4 Angiogenesis Modulating Agents Phase 1
5 Antineoplastic Agents, Immunological Phase 1
6 Antibodies 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:

42
Skeletal Muscle, Liver, Testes, Eye

Publications for Myopathy, Centronuclear, X-Linked

Articles related to Myopathy, Centronuclear, X-Linked:

(show top 50) (show all 98)
# Title Authors Year
1
Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy. ( 30884204 )
2019
2
X-linked myotubular myopathy: A prospective international natural history study. ( 30902907 )
2019
3
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
4
Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy. ( 30451843 )
2018
5
A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study. ( 29149770 )
2018
6
Successful use of non-invasive positive pressure ventilation in a patient with the severe form of X-linked myotubular myopathy. ( 29343419 )
2018
7
A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy. ( 28852708 )
2017
8
Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations. ( 28007904 )
2017
9
X-linked myotubular myopathy: Living longer and awaiting treatment. ( 28842443 )
2017
10
A natural history study of X-linked myotubular myopathy. ( 28842446 )
2017
11
Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male. ( 28622964 )
2017
12
Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy. ( 27155155 )
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
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons. ( 26823526 )
2016
16
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
17
Validity of a neurological scoring system for canine X-linked myotubular myopathy. ( 25970698 )
2015
18
Validity of a Neurological Scoring System for Canine X-Linked Myotubular Myopathy. ( 26086764 )
2015
19
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
20
Syngeneic Myoblast Transplantation Improves Muscle Function in a Murine Model of X-Linked Myotubular Myopathy. ( 25197964 )
2015
21
Clinical phenotype of X-linked myotubular myopathy in Labrador Retriever puppies. ( 25581576 )
2015
22
X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene. ( 25664165 )
2015
23
Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X-linked myotubular myopathy. ( 24861988 )
2014
24
Gait characteristics in a canine model of X-linked myotubular myopathy. ( 25281397 )
2014
25
Fatal Hepatic Hemorrhage from Peliosis Hepatis with X-linked Myotubular Myopathy: A Case Report. ( 24172586 )
2013
26
Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations. ( 23346162 )
2013
27
Fatal hepatic hemorrhage by peliosis hepatis in X-linked myotubular myopathy: a case report. ( 24011703 )
2013
28
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. ( 23307925 )
2013
29
Predisposition to subdural hemorrhage in X-linked myotubular myopathy. ( 22520358 )
2012
30
A rapid immunohistochemical test to distinguish congenital myotonic dystrophy from X-linked myotubular myopathy. ( 22113158 )
2012
31
Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy. ( 22264517 )
2012
32
Muscle function in a canine model of X-linked myotubular myopathy. ( 22987702 )
2012
33
X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10. ( 22153990 )
2012
34
X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation. ( 21488203 )
2011
35
Identification of a mutation in the MTM1 gene, associated with X-linked myotubular myopathy, in a Greek family. ( 22435031 )
2011
36
Mutation studies in X-linked myotubular myopathy in three Indian families. ( 20358311 )
2010
37
Prenatal diagnosis of X-linked myotubular myopathy. ( 20063324 )
2010
38
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. ( 20682747 )
2010
39
[Unilateral presentation of X-linked myotubular myopathy (XLMTM) in two out of three female carriers in a family with no affected male]. ( 18358876 )
2008
40
X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child. ( 19129059 )
2008
41
X-linked myotubular myopathy and chylothorax. ( 18077167 )
2008
42
Underdiagnosis of X-linked myotubular myopathy and other forms of centronuclear myopathy. ( 17306534 )
2007
43
Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. ( 17537630 )
2007
44
X-linked myotubular myopathy: report of a case with novel mutation. ( 17621527 )
2007
45
'Long-term survival in X-linked myotubular myopathy'. ( 17518939 )
2007
46
Floppy infant caused by MTM1 mutation: a first genetically-confirmed X-linked myotubular myopathy patient in Thailand. ( 16583589 )
2006
47
Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1. ( 17005396 )
2006
48
X-linked myotubular myopathy: anesthetic management for muscle biopsy. ( 16430426 )
2006
49
Gene expression analyses in X-linked myotubular myopathy. ( 16157907 )
2005
50
X-linked myotubular myopathy: mutation R69C identified in a family with multiple neonatal deaths. ( 15811014 )
2005

Variations for Myopathy, Centronuclear, X-Linked

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

76 (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 355)
# Gene Variation Type Significance SNP ID Assembly Location
1 MTM1 NM_000252.2(MTM1): c.139_141del (p.Lys47del) deletion Pathogenic rs587783788 GRCh38 Chromosome X, 150598594: 150598596
2 MTM1 NM_000252.2(MTM1): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs587783817 GRCh37 Chromosome X, 149761078: 149761078
3 MTM1 NM_000252.2(MTM1): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs587783817 GRCh38 Chromosome X, 150592616: 150592616
4 MTM1 NM_000252.2(MTM1): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587783823 GRCh37 Chromosome X, 149761079: 149761079
5 MTM1 NM_000252.2(MTM1): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587783823 GRCh38 Chromosome X, 150592617: 150592617
6 MTM1 NM_000252.2(MTM1): c.63+1G> A single nucleotide variant Pathogenic rs587783843 GRCh37 Chromosome X, 149761140: 149761140
7 MTM1 NM_000252.2(MTM1): c.63+1G> A single nucleotide variant Pathogenic rs587783843 GRCh38 Chromosome X, 150592678: 150592678
8 MTM1 NM_000252.2(MTM1): c.63+3A> T single nucleotide variant Likely pathogenic rs587783844 GRCh37 Chromosome X, 149761142: 149761142
9 MTM1 NM_000252.2(MTM1): c.63+3A> T single nucleotide variant Likely pathogenic rs587783844 GRCh38 Chromosome X, 150592680: 150592680
10 MTM1 NM_000252.2(MTM1): c.64-1G> A single nucleotide variant Pathogenic rs587783846 GRCh37 Chromosome X, 149764961: 149764961
11 MTM1 NM_000252.2(MTM1): c.64-1G> A single nucleotide variant Pathogenic rs587783846 GRCh38 Chromosome X, 150596497: 150596497
12 MTM1 NM_000252.2(MTM1): c.85C> T (p.Arg29Ter) single nucleotide variant Pathogenic rs587783857 GRCh37 Chromosome X, 149764983: 149764983
13 MTM1 NM_000252.2(MTM1): c.85C> T (p.Arg29Ter) single nucleotide variant Pathogenic rs587783857 GRCh38 Chromosome X, 150596519: 150596519
14 MTM1 NM_000252.2(MTM1): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs587783753 GRCh37 Chromosome X, 149765007: 149765007
15 MTM1 NM_000252.2(MTM1): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs587783753 GRCh38 Chromosome X, 150596543: 150596543
16 MTM1 NM_000252.2(MTM1): c.137-7T> G single nucleotide variant Uncertain significance rs587783784 GRCh37 Chromosome X, 149767049: 149767049
17 MTM1 NM_000252.2(MTM1): c.137-7T> G single nucleotide variant Uncertain significance rs587783784 GRCh38 Chromosome X, 150598585: 150598585
18 MTM1 NM_000252.2(MTM1): c.139_141del (p.Lys47del) deletion Pathogenic rs587783788 GRCh37 Chromosome X, 149767058: 149767060
19 MTM1 NM_000252.2(MTM1): c.141A> G (p.Lys47=) single nucleotide variant Uncertain significance rs587783790 GRCh37 Chromosome X, 149767060: 149767060
20 MTM1 NM_000252.2(MTM1): c.141A> G (p.Lys47=) single nucleotide variant Uncertain significance rs587783790 GRCh38 Chromosome X, 150598596: 150598596
21 MTM1 NM_000252.2(MTM1): c.145G> A (p.Val49Ile) single nucleotide variant Pathogenic rs587783796 GRCh37 Chromosome X, 149767064: 149767064
22 MTM1 NM_000252.2(MTM1): c.145G> A (p.Val49Ile) single nucleotide variant Pathogenic rs587783796 GRCh38 Chromosome X, 150598600: 150598600
23 MTM1 NM_000252.2(MTM1): c.145G> T (p.Val49Phe) single nucleotide variant Pathogenic rs587783796 GRCh37 Chromosome X, 149767064: 149767064
24 MTM1 NM_000252.2(MTM1): c.145G> T (p.Val49Phe) single nucleotide variant Pathogenic rs587783796 GRCh38 Chromosome X, 150598600: 150598600
25 MTM1 NM_000252.2(MTM1): c.153_156del (p.Ile52Valfs) deletion Pathogenic rs587783803 GRCh37 Chromosome X, 149767072: 149767075
26 MTM1 NM_000252.2(MTM1): c.153_156del (p.Ile52Valfs) deletion Pathogenic rs587783803 GRCh38 Chromosome X, 150598608: 150598611
27 MTM1 NM_000252.2(MTM1): c.154del (p.Ile52Tyrfs) deletion Pathogenic rs587783804 GRCh37 Chromosome X, 149767073: 149767073
28 MTM1 NM_000252.2(MTM1): c.154del (p.Ile52Tyrfs) deletion Pathogenic rs587783804 GRCh38 Chromosome X, 150598609: 150598609
29 MTM1 NM_000252.2(MTM1): c.205C> G (p.Arg69Gly) single nucleotide variant Pathogenic rs132630304 GRCh37 Chromosome X, 149767124: 149767124
30 MTM1 NM_000252.2(MTM1): c.205C> G (p.Arg69Gly) single nucleotide variant Pathogenic rs132630304 GRCh38 Chromosome X, 150598660: 150598660
31 MTM1 NM_000252.2(MTM1): c.208C> T (p.Leu70Phe) single nucleotide variant Pathogenic rs587783809 GRCh37 Chromosome X, 149767127: 149767127
32 MTM1 NM_000252.2(MTM1): c.208C> T (p.Leu70Phe) single nucleotide variant Pathogenic rs587783809 GRCh38 Chromosome X, 150598663: 150598663
33 MTM1 NM_000252.2(MTM1): c.231+1G> A single nucleotide variant Pathogenic rs587783810 GRCh37 Chromosome X, 149767151: 149767151
34 MTM1 NM_000252.2(MTM1): c.231+1G> A single nucleotide variant Pathogenic rs587783810 GRCh38 Chromosome X, 150598687: 150598687
35 MTM1 NM_000252.2(MTM1): c.231+2T> G single nucleotide variant Pathogenic rs587783811 GRCh37 Chromosome X, 149767152: 149767152
36 MTM1 NM_000252.2(MTM1): c.231+2T> G single nucleotide variant Pathogenic rs587783811 GRCh38 Chromosome X, 150598688: 150598688
37 MTM1 NM_000252.2(MTM1): c.232-3C> A single nucleotide variant Pathogenic rs587783814 GRCh37 Chromosome X, 149783059: 149783059
38 MTM1 NM_000252.2(MTM1): c.232-3C> A single nucleotide variant Pathogenic rs587783814 GRCh38 Chromosome X, 150614586: 150614586
39 MTM1 NM_000252.2(MTM1): c.232-2A> C single nucleotide variant Pathogenic rs587783813 GRCh37 Chromosome X, 149783060: 149783060
40 MTM1 NM_000252.2(MTM1): c.232-2A> C single nucleotide variant Pathogenic rs587783813 GRCh38 Chromosome X, 150614587: 150614587
41 MTM1 NM_000252.2(MTM1): c.232-1G> A single nucleotide variant Pathogenic rs587783812 GRCh37 Chromosome X, 149783061: 149783061
42 MTM1 NM_000252.2(MTM1): c.232-1G> A single nucleotide variant Pathogenic rs587783812 GRCh38 Chromosome X, 150614588: 150614588
43 MTM1 NM_000252.2(MTM1): c.252del (p.Asp84Glufs) deletion Pathogenic rs587783815 GRCh37 Chromosome X, 149783082: 149783082
44 MTM1 NM_000252.2(MTM1): c.252del (p.Asp84Glufs) deletion Pathogenic rs587783815 GRCh38 Chromosome X, 150614609: 150614609
45 MTM1 NM_000252.2(MTM1): c.260T> C (p.Leu87Pro) single nucleotide variant Pathogenic rs587783816 GRCh37 Chromosome X, 149783090: 149783090
46 MTM1 NM_000252.2(MTM1): c.260T> C (p.Leu87Pro) single nucleotide variant Pathogenic rs587783816 GRCh38 Chromosome X, 150614617: 150614617
47 MTM1 NM_000252.2(MTM1): c.301A> G (p.Ser101Gly) single nucleotide variant Pathogenic rs587783818 GRCh37 Chromosome X, 149783131: 149783131
48 MTM1 NM_000252.2(MTM1): c.301A> G (p.Ser101Gly) single nucleotide variant Pathogenic rs587783818 GRCh38 Chromosome X, 150614658: 150614658
49 MTM1 NM_000252.2(MTM1): c.340A> T (p.Lys114Ter) single nucleotide variant Pathogenic rs587783819 GRCh37 Chromosome X, 149783170: 149783170
50 MTM1 NM_000252.2(MTM1): c.340A> T (p.Lys114Ter) single nucleotide variant Pathogenic rs587783819 GRCh38 Chromosome X, 150614697: 150614697

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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