CNM1
MCID: MYP123
MIFTS: 53

Myopathy, Centronuclear, 1 (CNM1)

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Myopathy, Centronuclear, 1

MalaCards integrated aliases for Myopathy, Centronuclear, 1:

Name: Myopathy, Centronuclear, 1 57 19 73
Autosomal Dominant Centronuclear Myopathy 11 19 58 28 5 14
Centronuclear Myopathy 1 57 11 14
Ad-Cnm 11 19 58
Cnm1 57 11 73
Centronuclear Myopathy, Autosomal, Modifier of 57 28
Myopathy, Centronuclear, Autosomal Dominant 57 71
Myotubular Myopathy, Autosomal Dominant 57 19
Autosomal Dominant Myotubular Myopathy 73 71
Centronuclear Myopathy Autosomal Dominant 73
Dnm2-Related Centronuclear Myopathy 19
Myopathies, Structural, Congenital 43
Myopathy, Centronuclear, Type 1 38

Characteristics:


Inheritance:

Myopathy, Centronuclear, 1: Autosomal dominant 57
Autosomal Dominant Centronuclear Myopathy: Autosomal dominant 58

Age Of Onset:

Autosomal Dominant Centronuclear Myopathy: Adolescent,Adult,Childhood,Infancy,Neonatal 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
slowly progressive
variable age of onset (range early childhood to adult)


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Myopathy, Centronuclear, 1

GARD: 19 Autosomal dominant centronuclear myopathy (AD-CNM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. In AD-CNM, specifically, the severity of the condition and the associated signs and symptoms vary significantly among affected people. In people with a mild form, features of the condition generally don't develop until adolescence or early adulthood and may include slowly progressive muscle weakness, muscle pain with exercise and difficulty walking. Although some affected people will eventually lose the ability to walk, this usually does not occur before the 6th decade of life. In more severe cases, affected people may develop symptoms during infancy or early childhood such as hypotonia and generalized weakness. These children generally have delayed motor milestones and often need wheelchair assistance in childhood or adolescence. Most cases of AD-CNM are caused by changes in the DNM2 gene; however, some affected families are reported to have genetic changes in the MYF6 or CCDC78 genes. The condition is inherited in an autosomal dominant manner.

MalaCards based summary: Myopathy, Centronuclear, 1, also known as autosomal dominant centronuclear myopathy, is related to myopathy, centronuclear, 4 and centronuclear myopathy, and has symptoms including facial paresis and ophthalmoparesis. An important gene associated with Myopathy, Centronuclear, 1 is DNM2 (Dynamin 2). The drugs Sodium citrate and Tamoxifen have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, eye and peripheral nerve, and related phenotypes are centrally nucleated skeletal muscle fibers and ptosis

OMIM®: 57 Autosomal dominant centronuclear myopathy is a congenital myopathy characterized by slowly progressive muscular weakness and wasting. The disorder involves mainly limb girdle, trunk, and neck muscles but may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties. Ptosis and limitation of eye movements occur frequently. The most prominent histopathologic features include high frequency of centrally located nuclei in a large number of extrafusal muscle fibers (which is the basis of the name of the disorder), radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers (summary by Bitoun et al., 2005). (160150) (Updated 24-Oct-2022)

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities (sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features.

Disease Ontology 11 Autosomal dominant centronuclear myopathy: A centronuclear myopathy that has material basis in autosomal dominant inheritance.

Centronuclear myopathy 1: An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has material basis in heterozygous mutation in DNM2 on 19p13.2.

Related Diseases for Myopathy, Centronuclear, 1

Diseases in the Centronuclear Myopathy family:

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

Diseases related to Myopathy, Centronuclear, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 myopathy, centronuclear, 4 32.3 MYF6 CCDC78
2 centronuclear myopathy 31.9 TTN RYR1 MYF6 MTMR14 MTM1 KLHL40
3 myopathy, centronuclear, 5 31.9 MYF6 CCDC78
4 central core disease of muscle 30.8 RYR1 MTM1 DNM2 CCDC78 ACTA1
5 muscular dystrophy, congenital, lmna-related 30.8 TTN RYR1 MYOD1 ACTA1
6 muscular dystrophy 30.8 TTN RYR1 MYOD1 MYF6 ACTA1
7 ptosis 30.7 TTN RYR1 MTMR14 MTM1 DNM2 CCDC78
8 neuromuscular disease 30.7 TTN RYR1 MYOD1 MTM1 KLHL40 DNM2
9 myopathy 30.6 TTN RYR1 MYOD1 MYF6 MTMR14 MTM1
10 peripheral nervous system disease 30.5 TTN RYR1 MYOD1 MTM1 DNM2
11 myopathy, centronuclear, x-linked 30.5 TTN RYR1 MTMR14 MTM1 HACD1 DNM2
12 myopathy, centronuclear, 2 30.5 TTN RYR1 MYF6 MTM1 HACD1 DNM2
13 charcot-marie-tooth disease, dominant intermediate b 30.3 MTM1 DNM2
14 myopathy, centronuclear, 6, with fiber-type disproportion 11.0
15 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
16 myotonia 10.4
17 oral rhabdomyosarcoma 10.4 MYOD1 MYF6
18 rhabdomyolysis-myalgia syndrome 10.4 RYR1 MTMR14 CCDC78
19 skeletal muscle neoplasm 10.4 MYOD1 MYF6
20 king-denborough syndrome 10.4 RYR1 MTM1 KLHL40
21 severe congenital nemaline myopathy 10.4 KLHL40 ACTA1
22 foot drop 10.4 TTN ACTA1
23 inflammatory leiomyosarcoma 10.4 MYOD1 MYF6
24 ocular motility disease 10.4 RYR1 MTM1 DNM2
25 minicore myopathy with external ophthalmoplegia 10.4 TTN RYR1
26 myopathy, myofibrillar, 9, with early respiratory failure 10.3 TTN RYR1 MTM1
27 hyaline body myopathy 10.3 TTN RYR1 ACTA1
28 peliosis hepatis 10.3 MTM1 DNM2
29 myopathy, congenital, with fiber-type disproportion 10.3 RYR1 HACD1 ACTA1
30 fetal akinesia deformation sequence 1 10.3 RYR1 MYOD1 KLHL40 ACTA1
31 isolated elevated serum creatine phosphokinase levels 10.3 TTN RYR1 MTM1
32 myopathy, distal, 1 10.3 TTN RYR1 CCDC78 ACTA1
33 muscle tissue disease 10.3 TTN RYR1 MYOD1 MTM1
34 congenital structural myopathy 10.3 TTN RYR1 KLHL40 ACTA1
35 rigid spine muscular dystrophy 1 10.3 TTN RYR1 CCDC78 ACTA1
36 encephalopathy due to defective mitochondrial and peroxisomal fission 1 10.3 MIEF2 MIEF1
37 bethlem myopathy 1 10.3 TTN RYR1 MTM1
38 nemaline myopathy 11, autosomal recessive 10.3 PAXBP1 MYPOP KLHL40 AKIRIN1
39 muscular disease 10.3 TTN RYR1 MYOD1 MYF6 MTM1
40 neuronopathy, distal hereditary motor, type iia 10.3 PAXBP1 MYPOP KLHL40 AKIRIN1
41 myotonic dystrophy 1 10.3 TTN RYR1 MYOD1 MTM1 BIN1
42 nemaline myopathy 10 10.3 PAXBP1 MYPOP KLHL40 HACD1
43 myofibrillar myopathy 10.3 TTN RYR1 KLHL40 ACTA1
44 respiratory failure 10.3 TTN RYR1 KLHL40 ACTA1
45 facioscapulohumeral muscular dystrophy 1 10.3 TTN MYOD1 MYF6 ACTA1
46 limb-girdle muscular dystrophy 10.3 TTN RYR1 MYOD1 MTM1 ACTA1
47 kearns-sayre syndrome 10.3
48 malignant hyperthermia 10.3 RYR1 MTM1 CCDC78
49 cardiomyopathy, familial hypertrophic, 1 10.2 TTN RYR1 MTM1 ACTA1
50 multiminicore disease 10.2 TTN RYR1 MTM1 DNM2 CCDC78 ACTA1

Graphical network of the top 20 diseases related to Myopathy, Centronuclear, 1:



Diseases related to Myopathy, Centronuclear, 1

Symptoms & Phenotypes for Myopathy, Centronuclear, 1

Human phenotypes related to Myopathy, Centronuclear, 1:

58 30 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 centrally nucleated skeletal muscle fibers 58 30 Very rare (1%) Very frequent (99-80%)
HP:0003687
2 ptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000508
3 emg: myopathic abnormalities 58 30 Frequent (33%) Frequent (79-30%)
HP:0003458
4 proximal muscle weakness in lower limbs 58 30 Frequent (33%) Frequent (79-30%)
HP:0008994
5 proximal muscle weakness in upper limbs 58 30 Very rare (1%) Frequent (79-30%)
HP:0008997
6 type 1 muscle fiber predominance 58 30 Frequent (33%) Frequent (79-30%)
HP:0003803
7 polyhydramnios 58 30 Frequent (33%) Frequent (79-30%)
HP:0001561
8 decreased fetal movement 58 30 Frequent (33%) Frequent (79-30%)
HP:0001558
9 large for gestational age 58 30 Frequent (33%) Frequent (79-30%)
HP:0001520
10 difficulty walking 58 30 Frequent (33%) Frequent (79-30%)
HP:0002355
11 delayed gross motor development 58 30 Frequent (33%) Frequent (79-30%)
HP:0002194
12 thin ribs 58 30 Frequent (33%) Frequent (79-30%)
HP:0000883
13 generalized hypotonia 58 30 Very rare (1%) Frequent (79-30%)
HP:0001290
14 mildly elevated creatine kinase 58 30 Very rare (1%) Frequent (79-30%)
HP:0008180
15 macrocephaly at birth 58 30 Frequent (33%) Frequent (79-30%)
HP:0004488
16 abnormality of the foot musculature 58 30 Frequent (33%) Frequent (79-30%)
HP:0001436
17 muscle fibrillation 58 30 Very rare (1%) Frequent (79-30%)
HP:0010546
18 cryptorchidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000028
19 respiratory insufficiency due to muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002747
20 pyloric stenosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002021
21 cavernous hemangioma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001048
22 external ophthalmoplegia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000544
23 urinary incontinence 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000020
24 peripheral axonal neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003477
25 calf muscle hypertrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008981
26 exercise-induced myalgia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003738
27 neonatal asphyxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012768
28 areflexia of lower limbs 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002522
29 malignant hyperthermia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002047
30 proximal upper limb amyotrophy 30 Very rare (1%) HP:0008948
31 distal lower limb muscle weakness 30 Very rare (1%) HP:0009053
32 emg: positive sharp waves 30 Very rare (1%) HP:0030007
33 emg: myotonic discharges 30 Very rare (1%) HP:0100284
34 facial palsy 30 HP:0010628
35 hyperlordosis 30 HP:0003307
36 flexion contracture 30 HP:0001371
37 motor delay 30 HP:0001270
38 easy fatigability 30 HP:0003388
39 areflexia 30 HP:0001284
40 proximal muscle weakness 30 HP:0003701
41 spontaneous abortion 58 Frequent (79-30%)
42 sleepy facial expression 30 HP:0005335

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Eyes:
ptosis
ophthalmoparesis

Muscle Soft Tissue:
delayed motor development
muscle weakness, primarily proximal
distal muscle weakness may occur
muscle hypertrophy may occur
muscle biopsy shows centralized nuclei
more
Skeletal:
contractures

Neurologic Peripheral Nervous System:
areflexia

Head And Neck Face:
facial muscle weakness

Neurologic Central Nervous System:
walking difficulties

Clinical features from OMIM®:

160150 (Updated 24-Oct-2022)

UMLS symptoms related to Myopathy, Centronuclear, 1:


facial paresis; ophthalmoparesis

GenomeRNAi Phenotypes related to Myopathy, Centronuclear, 1 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.13 ACTA1 AKIRIN1 CCDC78 DNM2 HACD1 KDELR1
2 no effect GR00402-S-2 10.13 ACTA1 BIN1 CCDC78 DNM2 HACD1 KLHL40

MGI Mouse Phenotypes related to Myopathy, Centronuclear, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.4 ACTA1 BIN1 DNM2 HACD1 KLHL40 MTM1

Drugs & Therapeutics for Myopathy, Centronuclear, 1

Drugs for Myopathy, Centronuclear, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 1, Phase 2 68-04-2 23431961
2
Tamoxifen Approved Phase 1, Phase 2 10540-29-1, 54965-24-1 2733526
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
4 Antineoplastic Agents, Hormonal Phase 1, Phase 2
5 Citrate Phase 1, Phase 2
6 Estrogens Phase 1, Phase 2
7 Estrogen Receptor Modulators Phase 1, Phase 2
8 Hormones Phase 1, Phase 2
9 Estrogen Receptor Antagonists Phase 1, Phase 2
10 Estrogen Antagonists Phase 1, Phase 2
11 Hormone Antagonists Phase 1, Phase 2
12 Selective Estrogen Receptor Modulators Phase 1, Phase 2
13
Salbutamol Approved, Vet_approved 18559-94-9 2083
14 Adrenergic Agonists
15 Adrenergic Agents
16 Bronchodilator Agents
17 Tocolytic Agents
18 Respiratory System Agents
19 Anti-Asthmatic Agents
20 Neurotransmitter Agents
21 Adrenergic beta-Agonists

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 TAM4MTM: A Phase 1/2 Randomized, Placebo-Controlled, Double-Blinded, Single Crossover Study to Determine the Safety and Efficacy of Tamoxifen Therapy for Myotubular Myopathy (XLMTM) Recruiting NCT04915846 Phase 1, Phase 2 ApoTamox 10mg;Placebo
2 ASPIRO: A Phase 1/2/3, 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
3 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. Terminated NCT04033159 Phase 1, Phase 2 DYN101
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 Withdrawn NCT04743557 Phase 1, Phase 2 DYN101
5 INCEPTUS: A Prospective, Non-Interventional Clinical Assessment Study in X Linked Myotubular Myopathy (XLMTM) Subjects Aged 3 Years and Younger Completed NCT02704273
6 The RECENSUS Study: A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM) Completed NCT02231697
7 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM) Completed NCT02057705
8 Myotubular Myopathy Genetic Testing Study Completed NCT01817946
9 Prospective Study of Adverse Event Rates in Males With X-Linked Myotubular Myopathy Completed NCT01840657
10 Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM) Completed NCT02453152
11 Molecular Analysis of Neuromuscular Disease Recruiting NCT00272883
12 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies Recruiting NCT03351270
13 Myotubular and Centronuclear Myopathy Patient Registry Recruiting NCT04064307
14 COMPIS- Congenital Myopathy Intervention Study. An Open-label, Cross Over, Randomised, Controlled Study Using Oral Salbutamol Enrolling by invitation NCT05099107 Salbutamol (as Salbutamol Sulfate) 2 Mg Oral Tablet;Salbutamol Only Product in Oral Dose Form
15 A Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Centronuclear Myopathies Withdrawn NCT04977648

Search NIH Clinical Center for Myopathy, Centronuclear, 1

Cochrane evidence based reviews: myopathies, structural, congenital

Genetic Tests for Myopathy, Centronuclear, 1

Genetic tests related to Myopathy, Centronuclear, 1:

# Genetic test Affiliating Genes
1 Autosomal Dominant Centronuclear Myopathy 28 DNM2 MTMR14
2 Centronuclear Myopathy, Autosomal, Modifier of 28

Anatomical Context for Myopathy, Centronuclear, 1

Organs/tissues related to Myopathy, Centronuclear, 1:

MalaCards : Skeletal Muscle, Eye
ODiseA: Peripheral Nerve, Skeletal Muscle

Publications for Myopathy, Centronuclear, 1

Articles related to Myopathy, Centronuclear, 1:

(show top 50) (show all 64)
# Title Authors PMID Year
1
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. 62 57 5
22396310 2012
2
Mutations in dynamin 2 cause dominant centronuclear myopathy. 62 57 5
16227997 2005
3
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. 57 5
17008356 2006
4
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice. 62 5
20858595 2010
5
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. 62 5
20227276 2010
6
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. 5
34008892 2021
7
Molecular diagnostic experience of whole-exome sequencing in adult patients. 5
26633545 2016
8
A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy. 5
23374900 2013
9
Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy. 5
22096584 2011
10
Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers. 5
20529869 2010
11
A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation. 57
19122038 2009
12
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. 57
17932957 2007
13
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. 57
8544184 1995
14
Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies. 57
7935525 1994
15
Internal fixation of malar fractures: an experimental biophysical study. 5
2734399 1989
16
[Centronuclear myopathy with autosomal dominant inheritance(author's transl)]. 57
1150240 1975
17
Centronuclear myopathy with autosomal dominant inheritance. 57
5016690 1972
18
Type I muscle fibre atrophy and central nuclei. A rare familial neuromuscular disease. 57
4910660 1970
19
Myotubular myopathy. Persistence of fetal muscle in an adolescent boy. 57
4954227 1966
20
A dog model for centronuclear myopathy carrying the most common DNM2 mutation. 62
35244154 2022
21
Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy. 62
35282416 2022
22
Cnm1: A bridge between mitochondria and nuclear ER. 62
34694321 2021
23
Cnm1 mediates nucleus-mitochondria contact site formation in response to phospholipid levels. 62
34694322 2021
24
Satellite cells deficiency and defective regeneration in dynamin 2-related centronuclear myopathy. 62
33715228 2021
25
Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin. 62
32809972 2020
26
A case of de novo dynamin 2 (DNM2)-related centronuclear myopathy with electrical but not clinical myotonia. 62
32826616 2020
27
Insights into wild-type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish. 62
31691805 2019
28
Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model. 62
30733559 2019
29
Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease. 62
30426359 2018
30
Bio-economic and operational feasibility of introducing oestrus synchronization and artificial insemination in simulated smallholder sheep breeding programmes. 62
29143721 2018
31
Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy. 62
29246969 2018
32
Impaired excitation-contraction coupling in muscle fibres from the dynamin2R465W mouse model of centronuclear myopathy. 62
29071728 2017
33
Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1. 62
29103045 2017
34
Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy. 62
27870637 2016
35
Reprogramming the Dynamin 2 mRNA by Spliceosome-mediated RNA Trans-splicing. 62
27623444 2016
36
DNM2 mutations in Chinese Han patients with centronuclear myopathy. 62
26908122 2016
37
Zebrafish as a Model to Investigate Dynamin 2-Related Diseases. 62
26842864 2016
38
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. 62
25260562 2014
39
Myotonia in DNM2-related centronuclear myopathy. 62
24366529 2014
40
Pathogenic mechanisms in centronuclear myopathies. 62
25566070 2014
41
Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy. 62
24465259 2014
42
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. 62
23813975 2013
43
Adult centronuclear myopathies: A hospital-based study. 62
23938035 2013
44
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy. 62
23338057 2013
45
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort. 62
23394783 2013
46
Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2. 62
22613877 2012
47
Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination. 62
22451505 2012
48
Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathy. 62
22091729 2011
49
Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations. 62
21221624 2011
50
Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness. 62
21514436 2011

Variations for Myopathy, Centronuclear, 1

ClinVar genetic disease variations for Myopathy, Centronuclear, 1:

5 (show top 50) (show all 124)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNM2 NM_001005361.3(DNM2):c.1893+1G>A SNV Pathogenic
870614 rs2073061878 GRCh37: 19:10934576-10934576
GRCh38: 19:10823900-10823900
2 DNM2 NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp) SNV Pathogenic
7280 rs121909090 GRCh37: 19:10904508-10904508
GRCh38: 19:10793832-10793832
3 DNM2 NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) SNV Pathogenic
7281 rs121909091 GRCh37: 19:10909219-10909219
GRCh38: 19:10798543-10798543
4 DNM2 NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys) SNV Pathogenic
7282 rs121909092 GRCh37: 19:10904505-10904505
GRCh38: 19:10793829-10793829
5 DNM2 NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) SNV Pathogenic
158514 rs587783595 GRCh37: 19:10922947-10922947
GRCh38: 19:10812271-10812271
6 MYOD1 NM_002478.5(MYOD1):c.557dup (p.Arg188fs) DUP Pathogenic
631486 rs1179926739 GRCh37: 11:17741881-17741882
GRCh38: 11:17720334-17720335
7 DNM2 NM_001005361.3(DNM2):c.1853C>A (p.Ala618Asp) SNV Pathogenic
465283 rs1555715869 GRCh37: 19:10934535-10934535
GRCh38: 19:10823859-10823859
8 DNM2 NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln) SNV Pathogenic
7279 rs121909089 GRCh37: 19:10904509-10904509
GRCh38: 19:10793833-10793833
9 DNM2 NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys) SNV Pathogenic
931135 rs2073098775 GRCh37: 19:10935787-10935787
GRCh38: 19:10825111-10825111
10 DNM2 NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) SNV Pathogenic/Likely Pathogenic
7285 rs121909095 GRCh37: 19:10934538-10934538
GRCh38: 19:10823862-10823862
11 DNM2 NM_001005361.3(DNM2):c.1840G>A (p.Asp614Asn) SNV Likely Pathogenic
1705621 GRCh37: 19:10934522-10934522
GRCh38: 19:10823846-10823846
12 MTMR14 NM_001077525.3(MTMR14):c.199C>T (p.Arg67Ter) SNV Likely Pathogenic
1028507 rs754777692 GRCh37: 3:9695344-9695344
GRCh38: 3:9653660-9653660
13 DNM2 NM_001005361.3(DNM2):c.2411T>C (p.Phe804Ser) SNV Uncertain Significance
1029989 rs1237677745 GRCh37: 19:10940922-10940922
GRCh38: 19:10830246-10830246
14 DNM2 NM_001005361.3(DNM2):c.4G>A (p.Gly2Ser) SNV Uncertain Significance
1032514 rs2068817566 GRCh37: 19:10828922-10828922
GRCh38: 19:10718246-10718246
15 DNM2 NM_001005361.3(DNM2):c.982G>A (p.Ala328Thr) SNV Uncertain Significance
1251921 GRCh37: 19:10897372-10897372
GRCh38: 19:10786696-10786696
16 DNM2 NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr) SNV Uncertain Significance
888870 rs1360529572 GRCh37: 19:10939847-10939847
GRCh38: 19:10829171-10829171
17 DNM2 NM_001005361.3(DNM2):c.*379C>T SNV Uncertain Significance
891185 rs953057550 GRCh37: 19:10942102-10942102
GRCh38: 19:10831426-10831426
18 DNM2 NM_001005361.3(DNM2):c.2292-8C>A SNV Uncertain Significance
930350 rs757620658 GRCh37: 19:10940795-10940795
GRCh38: 19:10830119-10830119
19 DNM2 NM_001005361.3(DNM2):c.2376_2378del (p.Leu793del) DEL Uncertain Significance
930433 rs2073289554 GRCh37: 19:10940887-10940889
GRCh38: 19:10830211-10830213
20 MTMR14 NM_001077525.3(MTMR14):c.1390G>A (p.Ala464Thr) SNV Uncertain Significance
930442 rs756932434 GRCh37: 3:9730723-9730723
GRCh38: 3:9689039-9689039
21 DNM2 NM_001005361.3(DNM2):c.*373G>A SNV Uncertain Significance
891184 rs906210543 GRCh37: 19:10942096-10942096
GRCh38: 19:10831420-10831420
22 DNM2 NM_001005361.3(DNM2):c.-116C>T SNV Uncertain Significance
892101 rs966672075 GRCh37: 19:10828803-10828803
GRCh38: 19:10718127-10718127
23 DNM2 NM_001005361.3(DNM2):c.1196+647G>T SNV Uncertain Significance
1299475 GRCh37: 19:10906762-10906762
GRCh38: 19:10796086-10796086
24 MTM1 NM_000252.3(MTM1):c.1533C>A (p.Asn511Lys) SNV Uncertain Significance
634542 rs1569565536 GRCh37: X:149831971-149831971
GRCh38: X:150663498-150663498
25 DNM2 NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu) SNV Uncertain Significance
888872 rs779081943 GRCh37: 19:10940925-10940925
GRCh38: 19:10830249-10830249
26 DNM2 NM_001005361.3(DNM2):c.1418A>T (p.Asp473Val) SNV Uncertain Significance
246304 rs766613900 GRCh37: 19:10909244-10909244
GRCh38: 19:10798568-10798568
27 DNM2 NM_001005361.3(DNM2):c.1772C>T (p.Thr591Met) SNV Uncertain Significance
327983 rs372876881 GRCh37: 19:10930756-10930756
GRCh38: 19:10820080-10820080
28 DNM2 NM_001005361.3(DNM2):c.2418G>A (p.Ala806=) SNV Uncertain Significance
327989 rs200968756 GRCh37: 19:10940929-10940929
GRCh38: 19:10830253-10830253
29 DNM2 NM_001005361.3(DNM2):c.633C>T (p.Asp211=) SNV Uncertain Significance
327976 rs200191870 GRCh37: 19:10887837-10887837
GRCh38: 19:10777161-10777161
30 DNM2 NM_001005361.3(DNM2):c.1354T>G (p.Leu452Val) SNV Uncertain Significance
327979 rs770599060 GRCh37: 19:10909180-10909180
GRCh38: 19:10798504-10798504
31 DNM2 NM_001005361.3(DNM2):c.162-9C>A SNV Uncertain Significance
327973 rs200736669 GRCh37: 19:10870405-10870405
GRCh38: 19:10759729-10759729
32 DNM2 NM_001005361.3(DNM2):c.-122G>A SNV Uncertain Significance
327971 rs886054139 GRCh37: 19:10828797-10828797
GRCh38: 19:10718121-10718121
33 DNM2 NM_001005361.3(DNM2):c.-19G>T SNV Uncertain Significance
327972 rs753599004 GRCh37: 19:10828900-10828900
GRCh38: 19:10718224-10718224
34 DNM2 NM_001005361.3(DNM2):c.*88C>G SNV Uncertain Significance
328002 rs886054143 GRCh37: 19:10941811-10941811
GRCh38: 19:10831135-10831135
35 DNM2 NM_001005361.3(DNM2):c.*550G>A SNV Uncertain Significance
328011 rs886054148 GRCh37: 19:10942273-10942273
GRCh38: 19:10831597-10831597
36 DNM2 NM_001005361.3(DNM2):c.-153G>T SNV Uncertain Significance
327970 rs886054138 GRCh37: 19:10828766-10828766
GRCh38: 19:10718090-10718090
37 DNM2 NM_001005361.3(DNM2):c.*166G>A SNV Uncertain Significance
328004 rs886054145 GRCh37: 19:10941889-10941889
GRCh38: 19:10831213-10831213
38 DNM2 NM_001005361.3(DNM2):c.1493A>G (p.Asn498Ser) SNV Uncertain Significance
327982 rs886054140 GRCh37: 19:10913034-10913034
GRCh38: 19:10802358-10802358
39 DNM2 NM_001005361.3(DNM2):c.*82C>T SNV Uncertain Significance
328001 rs569502521 GRCh37: 19:10941805-10941805
GRCh38: 19:10831129-10831129
40 DNM2 NM_001005361.3(DNM2):c.*106T>C SNV Uncertain Significance
328003 rs886054144 GRCh37: 19:10941829-10941829
GRCh38: 19:10831153-10831153
41 DNM2 NM_001005361.3(DNM2):c.*79G>A SNV Uncertain Significance
328000 rs550692861 GRCh37: 19:10941802-10941802
GRCh38: 19:10831126-10831126
42 DNM2 NM_001005361.3(DNM2):c.*391C>T SNV Uncertain Significance
328009 rs886054147 GRCh37: 19:10942114-10942114
GRCh38: 19:10831438-10831438
43 DNM2 NM_001005361.3(DNM2):c.197G>A (p.Arg66Gln) SNV Uncertain Significance
562194 rs1568283807 GRCh37: 19:10870449-10870449
GRCh38: 19:10759773-10759773
44 MTMR14 NM_001077525.3(MTMR14):c.1790G>A (p.Arg597Gln) SNV Uncertain Significance
619283 rs757795544 GRCh37: 3:9743494-9743494
GRCh38: 3:9701810-9701810
45 DNM2 NM_001005361.3(DNM2):c.1810G>A (p.Glu604Lys) SNV Uncertain Significance
694734 rs951875086 GRCh37: 19:10934492-10934492
GRCh38: 19:10823816-10823816
46 MYF6 NM_002469.3(MYF6):c.334G>T (p.Ala112Ser) SNV Uncertain Significance
14153 rs28928909 GRCh37: 12:81101832-81101832
GRCh38: 12:80708053-80708053
47 DNM2 NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr) SNV Uncertain Significance
888712 rs2071432774 GRCh37: 19:10893770-10893770
GRCh38: 19:10783094-10783094
48 DNM2 NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met) SNV Uncertain Significance
888784 rs759366882 GRCh37: 19:10916609-10916609
GRCh38: 19:10805933-10805933
49 DNM2 NM_001005361.3(DNM2):c.2358C>A (p.Gly786=) SNV Uncertain Significance
888871 rs2073288383 GRCh37: 19:10940869-10940869
GRCh38: 19:10830193-10830193
50 DNM2 NM_001005361.3(DNM2):c.2560G>T (p.Ala854Ser) SNV Uncertain Significance
327991 rs886054141 GRCh37: 19:10941670-10941670
GRCh38: 19:10830994-10830994

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Centronuclear, 1:

73 (show all 19)
# Symbol AA change Variation ID SNP ID
1 DNM2 p.Glu368Lys VAR_031962 rs121909092
2 DNM2 p.Arg369Gln VAR_031963 rs121909089
3 DNM2 p.Arg369Trp VAR_031964 rs121909090
4 DNM2 p.Arg465Trp VAR_031965 rs121909091
5 DNM2 p.Ala618Thr VAR_039041 rs773598203
6 DNM2 p.Ser619Leu VAR_039042 rs121909095
7 DNM2 p.Ser619Trp VAR_039043 rs121909095
8 DNM2 p.Glu650Lys VAR_062576
9 DNM2 p.Glu368Gln VAR_068365
10 DNM2 p.Arg522Cys VAR_068366
11 DNM2 p.Arg522His VAR_068367 rs587783595
12 DNM2 p.Arg523Gly VAR_068368 rs587783596
13 DNM2 p.Glu560Lys VAR_068369 rs879254086
14 DNM2 p.Ala618Asp VAR_068370 rs1555715869
15 DNM2 p.Leu621Pro VAR_068371 rs587783597
16 DNM2 p.Pro627His VAR_068372
17 DNM2 p.Pro627Arg VAR_068373 rs587783598
18 MTMR14 p.Arg336Gln VAR_033370 rs121434509
19 MTMR14 p.Tyr462Cys VAR_033371 rs121434510

Expression for Myopathy, Centronuclear, 1

Search GEO for disease gene expression data for Myopathy, Centronuclear, 1.

Pathways for Myopathy, Centronuclear, 1

GO Terms for Myopathy, Centronuclear, 1

Cellular components related to Myopathy, Centronuclear, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 I band GO:0031674 9.32 TTN RYR1 MTM1 KLHL40 BIN1
2 striated muscle thin filament GO:0005865 9.13 TTN ACTA1

Biological processes related to Myopathy, Centronuclear, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome to lysosome transport GO:0008333 9.85 VPS39 MTM1 BIN1
2 positive regulation of skeletal muscle fiber development GO:0048743 9.71 MYOD1 MYF6
3 positive regulation of myoblast differentiation GO:0045663 9.63 MYOD1 MYF6 AKIRIN1
4 muscle cell fate commitment GO:0042693 9.62 MYOD1 MYF6
5 skeletal muscle thin filament assembly GO:0030240 9.56 TTN ACTA1
6 skeletal muscle fiber adaptation GO:0043503 9.26 MYOD1 ACTA1
7 skeletal muscle fiber development GO:0048741 9.23 RYR1 MYOD1 KLHL40 ACTA1

Molecular functions related to Myopathy, Centronuclear, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 8.92 MTMR14 MTM1

Sources for Myopathy, Centronuclear, 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....