MCID: CNT004
MIFTS: 54

Centronuclear Myopathy

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

Aliases & Classifications for Centronuclear Myopathy

MalaCards integrated aliases for Centronuclear Myopathy:

Name: Centronuclear Myopathy 12 72 49 24 36 51 14 69
Myopathy, Centronuclear 72 24 28 13
Myotubular Myopathy 12 72 28
Myopathies, Structural, Congenital 41
Congenital Structural Myopathy 69
Myopathy, Myotubular 72
Cnm 24

Classifications:



Summaries for Centronuclear Myopathy

NIH Rare Diseases : 49 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 myopathy, centronuclear, x-linked and myopathy, centronuclear, 2, and has symptoms including mask-like facies, ptosis and external ophthalmoplegia. An important gene associated with Centronuclear Myopathy is DNM2 (Dynamin 2), and among its related pathways/superpathways are Inositol phosphate metabolism and Phosphatidylinositol signaling system. Affiliated tissues include skeletal muscle, testes and heart, and related phenotypes are behavior/neurological and cardiovascular system

Genetics Home Reference : 24 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.

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.

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:

Myopathy, Centronuclear, 1 Myopathy, Centronuclear, 2
Myopathy, Centronuclear, 3 Myopathy, Centronuclear, 4
Myopathy, Centronuclear, 5

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 myopathy, centronuclear, x-linked 33.5 DNM2 MTM1
2 myopathy, centronuclear, 2 33.2 BIN1 SPEG TTN
3 myopathy, centronuclear, 1 33.0 BIN1 DNM2 MTMR14 RYR1
4 myopathy, congenital 31.8 DMD DNM2 MTM1 RYR1
5 myopathy 29.6 BIN1 DMD DNM2 MTM1 MTMR14 RYR1
6 neuromuscular disease 29.2 DMD MTM1 RYR1 TTN
7 myopathy, centronuclear, 5 11.7
8 myopathy, centronuclear, 6, with fiber-type disproportion 11.6
9 myopathy, centronuclear, 4 11.2
10 myopathy, centronuclear, 3 11.0
11 lethal congenital contracture syndrome 5 11.0
12 minicore myopathy with external ophthalmoplegia 11.0
13 brachial plexus neuritis 10.2 DNM2 MTM1
14 myotonia 10.2
15 central core myopathy 10.2 MTM1 RYR1
16 neuropathy 10.2
17 brody myopathy 10.1 DMD RYR1
18 cardioneuromyopathy with hyaline masses and nemaline rods 10.1 DMD TTN
19 cataract 10.1
20 dilated cardiomyopathy 10.1
21 neutropenia 10.1
22 reducing body myopathy 10.0 DMD TTN
23 charcot-marie-tooth disease, dominant intermediate b 10.0 DNM2 MTM1 RYR1
24 muscular dystrophy, limb-girdle, type 2f 10.0 DMD TTN
25 asphyxia neonatorum 10.0 MTM1 MTMR14 TTN
26 muscular dystrophy, limb-girdle, type 2b 10.0 DMD TTN
27 congenital hypomyelination neuropathy 10.0 MTMR2 SBF2
28 charcot-marie-tooth disease, demyelinating, type 4f 10.0 MTMR2 SBF2
29 charcot-marie-tooth disease, type 4j 9.9 MTMR2 SBF2
30 myofibrillar myopathy 9.9 DMD TTN
31 cataract 5, multiple types 9.9
32 central core disease of muscle 9.9
33 multiple sclerosis 9.9
34 aging 9.9
35 polyglucosan body myopathy 1 with or without immunodeficiency 9.9
36 congestive heart failure 9.9
37 congenital fiber-type disproportion 9.9
38 emery-dreifuss muscular dystrophy 9.9
39 malignant hyperthermia 9.9
40 muscular dystrophy 9.9
41 myotonic dystrophy 9.9
42 muscle tissue disease 9.9 DMD MTM1 RYR1
43 distal muscular dystrophy 9.9 DMD TTN
44 charcot-marie-tooth disease, type 4a 9.9 MTMR2 SBF2
45 familial isolated dilated cardiomyopathy 9.9 DMD TTN
46 arrhythmogenic right ventricular cardiomyopathy 9.8 DMD RYR1 TTN
47 rigid spine muscular dystrophy 1 9.8 DMD TTN
48 charcot-marie-tooth disease, axonal, type 2e 9.7 MTM1 MTMR2 SBF2
49 intrinsic cardiomyopathy 9.6 DMD TTN
50 early-onset glaucoma 9.1 MTM1 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:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 mask-like facies 31 frequent (33%) HP:0000298
2 ptosis 31 frequent (33%) HP:0000508
3 external ophthalmoplegia 31 frequent (33%) HP:0000544
4 seizures 31 frequent (33%) HP:0001250
5 muscular hypotonia 31 hallmark (90%) HP:0001252
6 gait disturbance 31 hallmark (90%) HP:0001288
7 reduced tendon reflexes 31 frequent (33%) HP:0001315
8 scoliosis 31 frequent (33%) HP:0002650
9 respiratory failure 31 frequent (33%) HP:0002878
10 skeletal muscle atrophy 31 hallmark (90%) HP:0003202
11 progressive muscle weakness 31 hallmark (90%) HP:0003323
12 emg abnormality 31 hallmark (90%) HP:0003457
13 centrally nucleated skeletal muscle fibers 31 hallmark (90%) HP:0003687
14 heart block 31 frequent (33%) HP:0012722

UMLS symptoms related to Centronuclear Myopathy:


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

MGI Mouse Phenotypes related to Centronuclear Myopathy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 BIN1 DMD MTM1 MTMR14 MTMR2 RYR1
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 DNM2 MTM1 MTMR2 RYR1 SBF1 SPEG
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:


# 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 Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies Recruiting NCT03351270
5 Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM) Recruiting NCT02453152
6 Myotubular Myopathy Genetic Testing Study Recruiting NCT01817946
7 A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM) Recruiting NCT02231697
8 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
9 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
10 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:

# Genetic test Affiliating Genes
1 Myotubular Myopathy 28
2 Myopathy, Centronuclear 28

Anatomical Context for Centronuclear Myopathy

MalaCards organs/tissues related to Centronuclear Myopathy:

38
Skeletal Muscle, Testes, Heart

Publications for Centronuclear Myopathy

Articles related to Centronuclear Myopathy:

(show top 50) (show all 185)
# Title Authors Year
1
Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy. ( 29246969 )
2018
2
Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells. ( 28676641 )
2017
3
Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy. ( 28624463 )
2017
4
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients. ( 28818389 )
2017
5
Impaired excitation-contraction coupling in muscle fibres from the dynamin2<sup>R465W</sup>mouse model of centronuclear myopathy. ( 29071728 )
2017
6
Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1. ( 29103045 )
2017
7
Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems. ( 27939133 )
2017
8
A rare case of centronuclear myopathy with DNM2 mutation: genotype-phenotype correlation. ( 28740838 )
2017
9
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
10
Emery-Dreifuss muscular dystrophy-linked genes and centronuclear myopathy-linked genes regulate myonuclear movement by distinct mechanisms. ( 28637766 )
2017
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
[Retraction] Clinical, pathological and genetic characteristics of autosomal dominant inherited dynaminA 2 centronuclear myopathy. ( 27176730 )
2016
14
DNM2 mutations in Chinese Han patients with centronuclear myopathy. ( 26908122 )
2016
15
Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy. ( 27870637 )
2016
16
Clinical, pathological and genetic characteristics of autosomal dominant inherited dynaminA 2 centronuclear myopathy. ( 27035234 )
2016
17
Clinical, Electrophysiology, and Pathology Features of Dynamin Centronuclear Myopathy: A Case Report and Review of Literature. ( 27861221 )
2016
18
Erratum: Reply: Respiratory motor function in centronuclear myopathy. ( 27198895 )
2016
19
Adult- Onset Centronuclear Myopathy. ( 27739277 )
2016
20
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
21
A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres. ( 25633151 )
2015
22
Neuromuscular blocking effects of cisatracurium and its antagonism with neostigmine in a canine model of autosomal-recessive centronuclear myopathy. ( 26582854 )
2015
23
The kalaemic and neuromuscular effects of succinylcholine in centronuclear myopathy: A pilot investigation in a canine model. ( 25603385 )
2015
24
The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy. ( 25492887 )
2015
25
DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy. ( 26273216 )
2015
26
Neuromuscular blocking effects of vecuronium in dogs with autosomal-recessive centronuclear myopathy. ( 25815571 )
2015
27
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. ( 25957634 )
2015
28
Respiratory motor function in centronuclear myopathy. ( 26561983 )
2015
29
Suspected congenital centronuclear myopathy in an Arabian-cross foal. ( 25410957 )
2014
30
Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and oligomerization. ( 24755653 )
2014
31
Contraction versus contracture and centronuclear myopathy versus central part myopathy in malignant hyperthermia. ( 24794461 )
2014
32
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy. ( 24569376 )
2014
33
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. ( 25260562 )
2014
34
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
35
Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy. ( 24465259 )
2014
36
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. ( 25087613 )
2014
37
Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy. ( 24549043 )
2014
38
Dynamin 2 the rescue for centronuclear myopathy. ( 24569368 )
2014
39
Identification of the mutation causing centronuclear myopathy in a border collie. ( 25081885 )
2014
40
A mutation associated with centronuclear myopathy enhances the size and stability of dynamin 2 complexes in cells. ( 24016602 )
2014
41
Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China. ( 25501959 )
2014
42
Histopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation. ( 22924779 )
2013
43
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy. ( 23338057 )
2013
44
Titin and centronuclear myopathy: The tip of the iceberg for TTN-ic mutations? ( 23975873 )
2013
45
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort. ( 23394783 )
2013
46
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. ( 23818870 )
2013
47
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
48
A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy. ( 23374900 )
2013
49
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. ( 23975875 )
2013
50
Myotonia in DNM2-related centronuclear myopathy. ( 24366529 )
2013

Variations for Centronuclear Myopathy

ClinVar genetic disease variations for Centronuclear Myopathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNM2 NM_001005360.2(DNM2): c.1565G> A (p.Arg522His) single nucleotide variant Pathogenic rs587783595 GRCh37 Chromosome 19, 10922947: 10922947
2 DNM2 NM_001005360.2(DNM2): c.1862T> C (p.Leu621Pro) single nucleotide variant Pathogenic rs587783597 GRCh37 Chromosome 19, 10934544: 10934544
3 DNM2 NM_001005360.2(DNM2): c.1880C> G (p.Pro627Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587783598 GRCh37 Chromosome 19, 10934562: 10934562
4 DNM2 NM_001005360.2(DNM2): c.1106G> A (p.Arg369Gln) single nucleotide variant Pathogenic rs121909089 GRCh37 Chromosome 19, 10904509: 10904509
5 DNM2 NM_001005360.2(DNM2): c.1105C> T (p.Arg369Trp) single nucleotide variant Pathogenic rs121909090 GRCh37 Chromosome 19, 10904508: 10904508
6 DNM2 NM_001005360.2(DNM2): c.1393C> T (p.Arg465Trp) single nucleotide variant Pathogenic rs121909091 GRCh37 Chromosome 19, 10909219: 10909219
7 DNM2 NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys) single nucleotide variant Pathogenic rs121909092 GRCh37 Chromosome 19, 10904505: 10904505
8 DNM2 NM_001005360.2(DNM2): c.1856C> T (p.Ser619Leu) single nucleotide variant Pathogenic rs121909095 GRCh37 Chromosome 19, 10934538: 10934538

Copy number variations for Centronuclear Myopathy from CNVD:

7
# 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

Pathways related to Centronuclear Myopathy according to KEGG:

36
# Name Kegg Source Accession
1 Inositol phosphate metabolism hsa00562
2 Phosphatidylinositol signaling system hsa04070
3 Endocytosis hsa04144
4 Synaptic vesicle cycle hsa04721
5 Endocrine and other factor-regulated calcium reabsorption hsa04961

GO Terms for Centronuclear Myopathy

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.91 BIN1 DMD DNM2 MTM1 MTMR14 MTMR2
2 cytoplasm GO:0005737 9.65 BIN1 DMD DNM2 MTM1 MTMR14 MTMR2
3 postsynaptic density GO:0014069 9.54 DMD DNM2 MTMR2
4 T-tubule GO:0030315 9.4 BIN1 RYR1
5 Z disc GO:0030018 9.33 BIN1 DMD TTN
6 vacuolar membrane GO:0005774 9.32 MTMR2 SBF2
7 I band GO:0031674 8.92 BIN1 MTM1 RYR1 TTN

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 dephosphorylation GO:0016311 9.61 MTM1 MTMR14 MTMR2
2 peptidyl-tyrosine dephosphorylation GO:0035335 9.5 MTM1 MTMR14 MTMR2
3 cardiac muscle contraction GO:0060048 9.49 DMD TTN
4 muscle filament sliding GO:0030049 9.48 DMD TTN
5 protein tetramerization GO:0051262 9.46 MTMR2 SBF2
6 protein dephosphorylation GO:0006470 9.46 MTM1 MTMR14 MTMR2 SBF1
7 phosphatidylinositol dephosphorylation GO:0046856 9.4 MTM1 MTMR2
8 muscle cell cellular homeostasis GO:0046716 9.37 DMD MTM1
9 nucleus localization GO:0051647 9.26 BIN1 DMD
10 muscle cell differentiation GO:0042692 9.13 BIN1 DMD SPEG
11 phosphatidylinositol biosynthetic process GO:0006661 8.92 MTM1 MTMR14 MTMR2 SBF1

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....