MCID: CNT004
MIFTS: 52

Centronuclear Myopathy

Categories: Rare diseases, Muscle diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Centronuclear Myopathy

MalaCards integrated aliases for Centronuclear Myopathy:

Name: Centronuclear Myopathy 12 50 25 52 14 69
Myopathy, Centronuclear 25 29 13
Myotubular Myopathy 12 29
Myopathies, Structural, Congenital 42
Congenital Structural Myopathy 69
Cnm 25

Classifications:



Summaries for Centronuclear Myopathy

NIH Rare Diseases : 50 centronuclear myopathy refers to a group of rare, inherited conditions that affect the muscles. there are three main forms of the condition that are differentiated by their pattern of inheritance: x-linked myotubular myopathy autosomal dominant centronuclear myopathy autosomal recessive centronuclear myopathy the cause of the condition and the associated signs and symptoms vary by subtype. for more information, click on the link of interest above. 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. last updated: 8/7/2015

MalaCards based summary : Centronuclear Myopathy, also known as myopathy, centronuclear, is related to congenital myopathy and lethal congenital contracture syndrome 5, and has symptoms including scoliosis, seizures and ptosis. An important gene associated with Centronuclear Myopathy is DNM2 (Dynamin 2), and among its related pathways/superpathways are PI Metabolism and Arf6 trafficking events. Affiliated tissues include skeletal muscle, testes and heart, and related phenotypes are behavior/neurological and cardiovascular system

Disease Ontology : 12 A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.

Genetics Home Reference : 25 Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family.

Wikipedia : 72 Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally... more...

Related Diseases for Centronuclear Myopathy

Diseases in the Centronuclear Myopathy family:

Centronuclear Myopathy 5 Myopathy, Centronuclear, 3
Myopathy, Centronuclear, 4 Myopathy, Centronuclear, Autosomal Recessive

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

(show top 50) (show all 54)
id Related Disease Score Top Affiliating Genes
1 congenital myopathy 32.3 DMD TTN
2 lethal congenital contracture syndrome 5 31.5 DNM2 MTM1 RYR1
3 congestive heart failure 29.8 MTMR2 SBF2
4 centronuclear myopathy, autosomal, modifier of 12.3
5 centronuclear myopathy 5 12.2
6 myopathy, centronuclear, autosomal recessive 11.8
7 myotubular myopathy, x-linked 11.8
8 myopathy, centronuclear, 4 11.1
9 myopathy 11.0
10 myopathy, centronuclear, 3 10.9
11 minicore myopathy with external ophthalmoplegia 10.9
12 epiphyseal dysplasia, multiple, with miniepiphyses 10.5 DNM2 MTM1
13 anal colloid adenocarcinoma 10.4 DNM2 MTM1
14 major affective disorder 4 10.2 DMD RYR1
15 cardiomyopathy 10.2
16 myotonia 10.1
17 chromosome 19q13.11 deletion syndrome, distal 10.1 MTMR2 SBF2
18 neuropathy 10.1
19 myelodysplastic myeloproliferative cancer 10.1 RYR1 TTN
20 myopathy, proximal, with early respiratory muscle involvement 10.1 BIN1 SPEG TTN
21 autistic disorder 10.0 MTM1 MTMR14 TTN
22 cataract 10.0
23 dilated cardiomyopathy 10.0
24 neutropenia 10.0
25 nkx2-1-related disorders 10.0 DMD TTN
26 amyotrophic lateral sclerosis 11 10.0 MTMR2 SBF2
27 lyme disease 9.9 DMD TTN
28 charcot-marie-tooth disease, axonal, with vocal cord paresis 9.9 MTMR2 SBF2
29 mental retardation, autosomal dominant 23 9.9 BIN1 DNM2 MTMR14 RYR1
30 autosomal recessive limb-girdle muscular dystrophy type 2e 9.9 DMD TTN
31 autoimmune disease of skin and connective tissue 9.9 DMD TTN
32 muscular dystrophy 9.8
33 central core disease 9.8
34 myotonic dystrophy 9.8
35 charcot-marie-tooth neuropathy 9.8
36 congenital fiber-type disproportion 9.8
37 emery-dreifuss muscular dystrophy 9.8
38 neuromuscular disease 9.8
39 malignant hyperthermia 9.8
40 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 9.8 DMD TTN
41 usher syndrome 9.7 DMD RYR1 TTN
42 eosinophilic variant of chromophobe renal cell carcinoma 9.6 DMD DNM2 MTM1 RYR1
43 charcot-marie-tooth disease, type 1f 9.6 MTM1 MTMR2 SBF2
44 muscular dystrophy, rigid spine, 1 9.6 DMD TTN
45 spongiotic dermatitis 9.4 DMD MTM1 RYR1 TTN
46 familial male-limited precocious puberty 8.9 MTM1 MTMR2 SBF1 SBF2
47 short stature, idiopathic familial 8.9 MTM1 MTMR2 SBF1 SBF2
48 hermansky-pudlak syndrome 5 8.9 MTM1 MTMR2 SBF1 SBF2
49 progesterone resistance 8.9 MTM1 MTMR2 SBF1 SBF2
50 amnestic disorder 8.9 DNM2 MTMR2 SBF1 SBF2

Graphical network of the top 20 diseases related to Centronuclear Myopathy:



Diseases related to Centronuclear Myopathy

Symptoms & Phenotypes for Centronuclear Myopathy

Human phenotypes related to Centronuclear Myopathy:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 frequent (33%) HP:0002650
2 seizures 32 frequent (33%) HP:0001250
3 ptosis 32 frequent (33%) HP:0000508
4 respiratory failure 32 frequent (33%) HP:0002878
5 muscular hypotonia 32 hallmark (90%) HP:0001252
6 heart block 32 frequent (33%) HP:0012722
7 external ophthalmoplegia 32 frequent (33%) HP:0000544
8 gait disturbance 32 hallmark (90%) HP:0001288
9 mask-like facies 32 frequent (33%) HP:0000298
10 progressive muscle weakness 32 hallmark (90%) HP:0003323
11 emg abnormality 32 hallmark (90%) HP:0003457
12 skeletal muscle atrophy 32 hallmark (90%) HP:0003202
13 reduced tendon reflexes 32 frequent (33%) HP:0001315
14 centrally nucleated skeletal muscle fibers 32 hallmark (90%) HP:0003687

UMLS symptoms related to Centronuclear Myopathy:


muscle cramp, muscle rigidity, muscle spasticity, muscle weakness, myalgia

MGI Mouse Phenotypes related to Centronuclear Myopathy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 MTMR14 MTMR2 RYR1 SBF2 TTN BIN1
2 cardiovascular system MP:0005385 9.92 BIN1 DMD DNM2 MTM1 MTMR14 RYR1
3 homeostasis/metabolism MP:0005376 9.86 BIN1 DMD DNM2 MTM1 MTMR14 RYR1
4 mortality/aging MP:0010768 9.81 BIN1 DMD DNM2 MTM1 MTMR2 RYR1
5 muscle MP:0005369 9.56 BIN1 DMD DNM2 MTM1 MTMR14 RYR1
6 reproductive system MP:0005389 9.1 BIN1 DMD MTM1 MTMR2 SBF1 SBF2

Drugs & Therapeutics for Centronuclear Myopathy

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Gene Transfer Clinical Study in X-Linked Myotubular Myopathy Recruiting NCT03199469 Phase 1, Phase 2
2 Myotubular Myopathy Event Study Completed NCT01840657
3 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM) Completed NCT02057705
4 Myotubular Myopathy Genetic Testing Study Recruiting NCT01817946
5 A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM) Recruiting NCT02231697
6 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
7 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
8 Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM) Active, not recruiting NCT02453152
9 A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects Active, not recruiting NCT02704273

Search NIH Clinical Center for Centronuclear Myopathy

Cochrane evidence based reviews: myopathies, structural, congenital

Genetic Tests for Centronuclear Myopathy

Genetic tests related to Centronuclear Myopathy:

id Genetic test Affiliating Genes
1 Myotubular Myopathy 29
2 Myopathy, Centronuclear 29

Anatomical Context for Centronuclear Myopathy

MalaCards organs/tissues related to Centronuclear Myopathy:

39
Skeletal Muscle, Testes, Heart

Publications for Centronuclear Myopathy

Articles related to Centronuclear Myopathy:

(show top 50) (show all 182)
id Title Authors Year
1
Emery-Dreifuss muscular dystrophy-linked genes and centronuclear myopathy-linked genes regulate myonuclear movement by distinct mechanisms. ( 28637766 )
2017
2
Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins. ( 27989427 )
2017
3
Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems. ( 27939133 )
2017
4
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients. ( 28818389 )
2017
5
A rare case of centronuclear myopathy with DNM2 mutation: genotype-phenotype correlation. ( 28740838 )
2017
6
Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells. ( 28676641 )
2017
7
Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy. ( 28624463 )
2017
8
[Retraction] Clinical, pathological and genetic characteristics of autosomal dominant inherited dynaminA 2 centronuclear myopathy. ( 27176730 )
2016
9
Noninvasive Assessment of Neuromuscular Disease in Dogs: Use of the 6-minute Walk Test to Assess Submaximal Exercise Tolerance in Dogs with Centronuclear Myopathy. ( 27012153 )
2016
10
Clinical, pathological and genetic characteristics of autosomal dominant inherited dynaminA 2 centronuclear myopathy. ( 27035234 )
2016
11
Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2. ( 27343996 )
2016
12
Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation. ( 27854204 )
2016
13
DNM2 mutations in Chinese Han patients with centronuclear myopathy. ( 26908122 )
2016
14
Clinical, Electrophysiology, and Pathology Features of Dynamin Centronuclear Myopathy: A Case Report and Review of Literature. ( 27861221 )
2016
15
Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy. ( 27870637 )
2016
16
Adult- Onset Centronuclear Myopathy. ( 27739277 )
2016
17
Erratum: Reply: Respiratory motor function in centronuclear myopathy. ( 27198895 )
2016
18
DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy. ( 26273216 )
2015
19
The kalaemic and neuromuscular effects of succinylcholine in centronuclear myopathy: A pilot investigation in a canine model. ( 25603385 )
2015
20
The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy. ( 25492887 )
2015
21
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. ( 25957634 )
2015
22
Neuromuscular blocking effects of cisatracurium and its antagonism with neostigmine in a canine model of autosomal-recessive centronuclear myopathy. ( 26582854 )
2015
23
A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres. ( 25633151 )
2015
24
Respiratory motor function in centronuclear myopathy. ( 26561983 )
2015
25
Neuromuscular blocking effects of vecuronium in dogs with autosomal-recessive centronuclear myopathy. ( 25815571 )
2015
26
Contraction versus contracture and centronuclear myopathy versus central part myopathy in malignant hyperthermia. ( 24794461 )
2014
27
Suspected congenital centronuclear myopathy in an Arabian-cross foal. ( 25410957 )
2014
28
Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China. ( 25501959 )
2014
29
Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy. ( 24549043 )
2014
30
Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy. ( 24465259 )
2014
31
Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and oligomerization. ( 24755653 )
2014
32
Dynamin 2 the rescue for centronuclear myopathy. ( 24569368 )
2014
33
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. ( 25087613 )
2014
34
A mutation associated with centronuclear myopathy enhances the size and stability of dynamin 2 complexes in cells. ( 24016602 )
2014
35
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. ( 25260562 )
2014
36
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy. ( 24569376 )
2014
37
Identification of the mutation causing centronuclear myopathy in a border collie. ( 25081885 )
2014
38
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. ( 25262827 )
2014
39
The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies. ( 23917616 )
2013
40
Muscle-specific function of the centronuclear myopathy and Charcot-Marie-Tooth neuropathy-associated dynamin 2 is required for proper lipid metabolism, mitochondria, muscle fibers, neuromuscular junctions and peripheral nerves. ( 23813975 )
2013
41
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. ( 23818870 )
2013
42
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy. ( 23338057 )
2013
43
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. ( 23975875 )
2013
44
Myotonia in DNM2-related centronuclear myopathy. ( 24366529 )
2013
45
Titin and centronuclear myopathy: The tip of the iceberg for TTN-ic mutations? ( 23975873 )
2013
46
A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy. ( 23374900 )
2013
47
Histopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation. ( 22924779 )
2013
48
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort. ( 23394783 )
2013
49
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy. ( 23754947 )
2013
50
Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice. ( 23071445 )
2012

Variations for Centronuclear Myopathy

ClinVar genetic disease variations for Centronuclear Myopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DNM2 NM_001005360.2(DNM2): c.1106G> A (p.Arg369Gln) single nucleotide variant Pathogenic rs121909089 GRCh37 Chromosome 19, 10904509: 10904509
2 DNM2 NM_001005360.2(DNM2): c.1105C> T (p.Arg369Trp) single nucleotide variant Pathogenic rs121909090 GRCh37 Chromosome 19, 10904508: 10904508
3 DNM2 NM_001005360.2(DNM2): c.1393C> T (p.Arg465Trp) single nucleotide variant Pathogenic rs121909091 GRCh37 Chromosome 19, 10909219: 10909219
4 DNM2 NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys) single nucleotide variant Pathogenic rs121909092 GRCh37 Chromosome 19, 10904505: 10904505
5 DNM2 NM_001005360.2(DNM2): c.1856C> T (p.Ser619Leu) single nucleotide variant Pathogenic rs121909095 GRCh37 Chromosome 19, 10934538: 10934538
6 DNM2 NM_001005360.2(DNM2): c.1565G> A (p.Arg522His) single nucleotide variant Pathogenic rs587783595 GRCh38 Chromosome 19, 10812271: 10812271
7 DNM2 NM_001005360.2(DNM2): c.1862T> C (p.Leu621Pro) single nucleotide variant Pathogenic rs587783597 GRCh38 Chromosome 19, 10823868: 10823868
8 DNM2 NM_001005360.2(DNM2): c.1880C> G (p.Pro627Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587783598 GRCh37 Chromosome 19, 10934562: 10934562

Copy number variations for Centronuclear Myopathy from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 41408 10 17671963 17699379 Insertion PTPLA Centronuclear myopathy

Expression for Centronuclear Myopathy

Search GEO for disease gene expression data for Centronuclear Myopathy.

Pathways for Centronuclear Myopathy

GO Terms for Centronuclear Myopathy

Cellular components related to Centronuclear Myopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.81 BIN1 DMD DNM2 MTM1 MTMR14 MTMR2
2 T-tubule GO:0030315 9.37 BIN1 RYR1
3 postsynaptic density GO:0014069 9.32 DNM2 MTMR2
4 vacuolar membrane GO:0005774 9.26 MTMR2 SBF2
5 Z disc GO:0030018 9.13 BIN1 DMD TTN
6 I band GO:0031674 8.92 BIN1 MTM1 RYR1 TTN
7 cytoplasm GO:0005737 10.06 BIN1 DMD DNM2 MTM1 MTMR14 MTMR2

Biological processes related to Centronuclear Myopathy according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 dephosphorylation GO:0016311 9.63 MTM1 MTMR14 MTMR2
2 membrane organization GO:0061024 9.56 BIN1 DNM2 SBF1 SBF2
3 peptidyl-tyrosine dephosphorylation GO:0035335 9.54 MTM1 MTMR14 MTMR2
4 cardiac muscle contraction GO:0060048 9.51 DMD TTN
5 muscle filament sliding GO:0030049 9.49 DMD TTN
6 protein tetramerization GO:0051262 9.48 MTMR2 SBF2
7 protein dephosphorylation GO:0006470 9.46 MTM1 MTMR14 MTMR2 SBF1
8 phosphatidylinositol dephosphorylation GO:0046856 9.43 MTM1 MTMR2
9 muscle cell cellular homeostasis GO:0046716 9.4 DMD MTM1
10 nucleus localization GO:0051647 9.32 BIN1 DMD
11 muscle cell differentiation GO:0042692 9.13 BIN1 DMD SPEG
12 phosphatidylinositol biosynthetic process GO:0006661 8.92 MTM1 MTMR14 MTMR2 SBF1

Molecular functions related to Centronuclear Myopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.43 SBF1 SBF2
2 protein tyrosine phosphatase activity GO:0004725 9.43 MTM1 MTMR14 MTMR2
3 protein tyrosine/serine/threonine phosphatase activity GO:0008138 9.4 MTMR2 SBF1
4 structural constituent of muscle GO:0008307 9.37 DMD TTN
5 nitric-oxide synthase binding GO:0050998 9.32 DMD DNM2
6 phosphatase regulator activity GO:0019208 9.16 SBF1 SBF2
7 phosphatidylinositol-3-phosphatase activity GO:0004438 9.13 MTM1 MTMR14 MTMR2
8 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 8.8 MTM1 MTMR14 MTMR2

Sources for Centronuclear Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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