CNM1
MCID: MYP123
MIFTS: 53

Myopathy, Centronuclear, 1 (CNM1)

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

Aliases & Classifications for Myopathy, Centronuclear, 1

MalaCards integrated aliases for Myopathy, Centronuclear, 1:

Name: Myopathy, Centronuclear, 1 57 20 72 29 6
Autosomal Dominant Centronuclear Myopathy 12 20 58 15
Centronuclear Myopathy 1 57 12 15
Ad-Cnm 12 20 58
Cnm1 57 12 72
Centronuclear Myopathy, Autosomal, Modifier of 57 29
Myopathy, Centronuclear, Autosomal Dominant 57 70
Myotubular Myopathy, Autosomal Dominant 57 20
Autosomal Dominant Myotubular Myopathy 72 70
Centronuclear Myopathy Autosomal Dominant 72
Dnm2-Related Centronuclear Myopathy 20
Myopathies, Structural, Congenital 44
Myopathy, Centronuclear, Type 1 39

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant centronuclear myopathy
Inheritance: Autosomal dominant; Age of onset: Adolescent,Childhood,Infancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
variable age of onset (range early childhood to adult)


HPO:

31
myopathy, centronuclear, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Myopathy, Centronuclear, 1

GARD : 20 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 ( mutations ) in the DNM2 gene ; however, some affected families are reported to have mutations in the MYF6 or CCDC78 genes. The condition is inherited in an autosomal dominant 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, 1, also known as autosomal dominant centronuclear myopathy, is related to centronuclear myopathy and myopathy, centronuclear, 5, and has symptoms including ophthalmoparesis and facial paresis. An important gene associated with Myopathy, Centronuclear, 1 is DNM2 (Dynamin 2), and among its related pathways/superpathways are Delta508-CFTR traffic / ER-to-Golgi in CF and Fc gamma R-mediated phagocytosis. Affiliated tissues include eye and skeletal muscle, and related phenotypes are centrally nucleated skeletal muscle fibers and ptosis

Disease Ontology : 12 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.

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 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Myopathy, centronuclear, 1: 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.

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 64)
# Related Disease Score Top Affiliating Genes
1 centronuclear myopathy 32.2 RYR1 MYF6 MTMR14 MTM1 DYSF DNM2
2 myopathy, centronuclear, 5 31.6 MYF6 FLNC
3 central core disease of muscle 31.0 RYR1 MYOT
4 ptosis 30.9 RYR1 MTMR14 MTM1 DNM2 BIN1
5 charcot-marie-tooth disease, dominant intermediate b 30.9 MTMR14 MTM1 DNM2
6 muscular dystrophy, congenital, lmna-related 30.9 RYR1 MYOT MYOD1 DYSF DNAJB6
7 myopathy 30.9 RYR1 MYOT MYOD1 MYF6 MTMR14 MTM1
8 miyoshi muscular dystrophy 30.8 MYOT FLNC DYSF
9 muscular dystrophy 30.7 RYR1 MYOT MYOD1 MYF6 FLNC DYSF
10 myopathy, centronuclear, 2 30.6 RYR1 MTM1 GCN1 DYSF DNM2 BIN1
11 myopathy, centronuclear, 4 11.2
12 myopathy, centronuclear, 6, with fiber-type disproportion 10.9
13 conventional leiomyosarcoma 10.5 MYOD1 MYF6
14 muscular dystrophy, limb-girdle, type 1h 10.5 MYOT DNAJB6
15 peliosis hepatis 10.5 MTM1 DNM2
16 autosomal recessive limb-girdle muscular dystrophy type 2q 10.4 MYOT DNAJB6
17 charcot-marie-tooth disease, type 4b2 10.4 MTMR14 MTM1 DNM2
18 ocular motility disease 10.4 RYR1 MTM1 DNM2
19 myopathy, myofibrillar, 2 10.4 MYOT FLNC DNAJB6
20 foot drop 10.4 MYOT DYSF
21 limb-girdle muscular dystrophy type 1a 10.4 MYOT FLNC DYSF
22 autosomal dominant limb-girdle muscular dystrophy 10.4 MYOT FLNC DNAJB6
23 myopathy, myofibrillar, 1 10.4 MYOT FLNC DNAJB6
24 myopathy, myofibrillar, 9, with early respiratory failure 10.4 MYOT FLNC DNAJB6
25 muscular dystrophy, limb-girdle, autosomal recessive 7 10.4 MYOT DYSF
26 muscular dystrophy, limb-girdle, autosomal dominant 2 10.4 MYOT DYSF DNAJB6
27 autosomal recessive limb-girdle muscular dystrophy type 2a 10.4 MYOT FLNC DYSF
28 autosomal recessive limb-girdle muscular dystrophy type 2j 10.4 MYOT DYSF
29 muscular dystrophy, limb-girdle, autosomal dominant 1 10.4 MYOT DYSF DNAJB6
30 congenital structural myopathy 10.4 RYR1 MYOT MTM1 FLNC
31 autosomal recessive limb-girdle muscular dystrophy type 2x 10.4 MYOT DYSF
32 tibial muscular dystrophy 10.4 MYOT FLNC DYSF
33 autosomal recessive limb-girdle muscular dystrophy type 2l 10.4 MYOT DYSF
34 batten-turner congenital myopathy 10.4 RYR1 MTM1 DYSF DNM2
35 muscular dystrophy, limb-girdle, autosomal dominant 3 10.4 MYOT DNAJB6
36 autosomal recessive limb-girdle muscular dystrophy type 2h 10.4 MYOT DYSF
37 isolated elevated serum creatine phosphokinase levels 10.4 RYR1 MYOT DYSF
38 rigid spine muscular dystrophy 1 10.4 RYR1 MYOT DYSF
39 autosomal recessive limb-girdle muscular dystrophy type 2c 10.4 MYOT DYSF
40 bethlem myopathy 1 10.4 RYR1 MYOT DYSF
41 myotonia 10.4
42 myopathy, myofibrillar, 3 10.4 MYOT FLNC DYSF DNAJB6
43 nonaka myopathy 10.4 MYOT FLNC DYSF DNAJB6
44 autosomal recessive limb-girdle muscular dystrophy 10.4 MYOT MYOD1 FLNC DYSF
45 autosomal recessive limb-girdle muscular dystrophy type 2f 10.4 MYOT DYSF
46 myofibrillar myopathy 10.3 MYOT FLNC DYSF DNM2 DNAJB6
47 autosomal recessive limb-girdle muscular dystrophy type 2g 10.3 MYOT DYSF
48 myopathy, centronuclear, x-linked 10.3 RYR1 MTMR14 MTM1 DNM2 BIN1 AMPH
49 chromosome 17p13.3, centromeric, duplication syndrome 10.3 MYO1E MYO1C
50 emery-dreifuss muscular dystrophy 10.3 MYOT MYOD1 DYSF

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 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 centrally nucleated skeletal muscle fibers 58 31 hallmark (90%) Very frequent (99-80%) HP:0003687
2 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
3 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
4 proximal muscle weakness in lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0008994
5 proximal muscle weakness in upper limbs 58 31 frequent (33%) Frequent (79-30%) HP:0008997
6 type 1 muscle fiber predominance 58 31 frequent (33%) Frequent (79-30%) HP:0003803
7 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
8 decreased fetal movement 58 31 frequent (33%) Frequent (79-30%) HP:0001558
9 large for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001520
10 mildly elevated creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0008180
11 delayed gross motor development 58 31 frequent (33%) Frequent (79-30%) HP:0002194
12 thin ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000883
13 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
14 spontaneous abortion 58 31 frequent (33%) Frequent (79-30%) HP:0005268
15 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
16 macrocephaly at birth 58 31 frequent (33%) Frequent (79-30%) HP:0004488
17 abnormality of the foot musculature 58 31 frequent (33%) Frequent (79-30%) HP:0001436
18 muscle fibrillation 58 31 frequent (33%) Frequent (79-30%) HP:0010546
19 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
20 respiratory insufficiency due to muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002747
21 pyloric stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002021
22 cavernous hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001048
23 external ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000544
24 calf muscle hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008981
25 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
26 peripheral axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003477
27 exercise-induced myalgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003738
28 neonatal asphyxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012768
29 areflexia of lower limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002522
30 skeletal muscle hypertrophy 31 occasional (7.5%) HP:0003712
31 malignant hyperthermia 58 31 very rare (1%) Very rare (<4-1%) HP:0002047
32 facial palsy 31 HP:0010628
33 hyperlordosis 31 HP:0003307
34 flexion contracture 31 HP:0001371
35 motor delay 31 HP:0001270
36 easy fatigability 31 HP:0003388
37 areflexia 31 HP:0001284
38 proximal muscle weakness 31 HP:0003701
39 sleepy facial expression 31 HP:0005335

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

UMLS symptoms related to Myopathy, Centronuclear, 1:


ophthalmoparesis; facial paresis

MGI Mouse Phenotypes related to Myopathy, Centronuclear, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 BAZ1B BIN1 DNM2 DYSF FLNC MTM1
2 mortality/aging MP:0010768 9.83 AMPH BAZ1B BIN1 DDX46 DNAJB6 DNM2
3 muscle MP:0005369 9.36 BAZ1B BIN1 DNM2 DYSF FLNC MTM1

Drugs & Therapeutics for Myopathy, Centronuclear, 1

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 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. Recruiting NCT04033159 Phase 1, Phase 2 DYN101
2 ASPIRO: A Phase 1/2, 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, 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 Not yet recruiting NCT04743557 Phase 1, Phase 2 DYN101
4 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Unknown status NCT01403402
5 Prospective Study of Adverse Event Rates in Males With X-Linked Myotubular Myopathy Completed NCT01840657
6 The RECENSUS Study: A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM) Completed NCT02231697
7 Myotubular Myopathy Genetic Testing Study Completed NCT01817946
8 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM) Completed NCT02057705
9 Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM) Completed NCT02453152
10 INCEPTUS: A Prospective, Non-Interventional Clinical Assessment Study in X Linked Myotubular Myopathy (XLMTM) Subjects Aged 3 Years and Younger Completed NCT02704273
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

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 Myopathy, Centronuclear, 1 29 DNM2 MTMR14
2 Centronuclear Myopathy, Autosomal, Modifier of 29

Anatomical Context for Myopathy, Centronuclear, 1

MalaCards organs/tissues related to Myopathy, Centronuclear, 1:

40
Eye, Skeletal Muscle

Publications for Myopathy, Centronuclear, 1

Articles related to Myopathy, Centronuclear, 1:

(show all 18)
# Title Authors PMID Year
1
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. 57 6
17008356 2006
2
Mutations in dynamin 2 cause dominant centronuclear myopathy. 6 57
16227997 2005
3
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
4
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. 57
22396310 2012
5
Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy. 6
22096584 2011
6
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice. 6
20858595 2010
7
Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers. 6
20529869 2010
8
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. 6
20227276 2010
9
A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation. 57
19122038 2009
10
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. 57
17932957 2007
11
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
12
Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies. 57
7935525 1994
13
[Centronuclear myopathy with autosomal dominant inheritance(author's transl)]. 57
1150240 1975
14
Centronuclear myopathy with autosomal dominant inheritance. 57
5016690 1972
15
Type I muscle fibre atrophy and central nuclei. A rare familial neuromuscular disease. 57
4910660 1970
16
Myotubular myopathy. Persistence of fetal muscle in an adolescent boy. 57
4954227 1966
17
Bio-economic and operational feasibility of introducing oestrus synchronization and artificial insemination in simulated smallholder sheep breeding programmes. 61
29143721 2018
18
DNM2 mutations in Chinese Han patients with centronuclear myopathy. 61
26908122 2016

Variations for Myopathy, Centronuclear, 1

ClinVar genetic disease variations for Myopathy, Centronuclear, 1:

6 (show top 50) (show all 149)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYOD1 NM_002478.5(MYOD1):c.557dup (p.Arg188fs) Duplication Pathogenic 631486 rs1179926739 GRCh37: 11:17741881-17741882
GRCh38: 11:17720334-17720335
2 DNM2 NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys) SNV Pathogenic 931135 GRCh37: 19:10935787-10935787
GRCh38: 19:10825111-10825111
3 DNM2 NM_001005361.3(DNM2):c.1893+1G>A SNV Pathogenic 870614 GRCh37: 19:10934576-10934576
GRCh38: 19:10823900-10823900
4 DNM2 NM_001005360.2(DNM2):c.1106G>A (p.Arg369Gln) SNV Pathogenic 7279 rs121909089 GRCh37: 19:10904509-10904509
GRCh38: 19:10793833-10793833
5 DNM2 NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp) SNV Pathogenic 7280 rs121909090 GRCh37: 19:10904508-10904508
GRCh38: 19:10793832-10793832
6 DNM2 NM_001005360.2(DNM2):c.1393C>T (p.Arg465Trp) SNV Pathogenic 7281 rs121909091 GRCh37: 19:10909219-10909219
GRCh38: 19:10798543-10798543
7 DNM2 NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys) SNV Pathogenic 7282 rs121909092 GRCh37: 19:10904505-10904505
GRCh38: 19:10793829-10793829
8 DNM2 NM_001005360.2(DNM2):c.1565G>A (p.Arg522His) SNV Pathogenic 158514 rs587783595 GRCh37: 19:10922947-10922947
GRCh38: 19:10812271-10812271
9 MYF6 NM_002469.3(MYF6):c.200dup (p.Leu68fs) Duplication Pathogenic 1033926 GRCh37: 12:81101695-81101696
GRCh38: 12:80707916-80707917
10 DNM2 NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) SNV Pathogenic/Likely pathogenic 7285 rs121909095 GRCh37: 19:10934538-10934538
GRCh38: 19:10823862-10823862
11 MTMR14 NM_001077525.3(MTMR14):c.199C>T (p.Arg67Ter) SNV Likely pathogenic 1028507 GRCh37: 3:9695344-9695344
GRCh38: 3:9653660-9653660
12 DNM2 NM_001005361.3(DNM2):c.1141G>A (p.Glu381Lys) SNV Uncertain significance 935485 GRCh37: 19:10906060-10906060
GRCh38: 19:10795384-10795384
13 DNM2 NM_001005361.3(DNM2):c.2411T>C (p.Phe804Ser) SNV Uncertain significance 1029989 GRCh37: 19:10940922-10940922
GRCh38: 19:10830246-10830246
14 DNM2 NM_001005361.3(DNM2):c.1552A>C (p.Ile518Leu) SNV Uncertain significance 1032513 GRCh37: 19:10919251-10919251
GRCh38: 19:10808575-10808575
15 DNM2 NM_001005361.3(DNM2):c.4G>A (p.Gly2Ser) SNV Uncertain significance 1032514 GRCh37: 19:10828922-10828922
GRCh38: 19:10718246-10718246
16 MYF6 NM_002469.3(MYF6):c.193C>T (p.Pro65Ser) SNV Uncertain significance 1034631 GRCh37: 12:81101691-81101691
GRCh38: 12:80707912-80707912
17 MYF6 NM_002469.3(MYF6):c.511C>G (p.Gln171Glu) SNV Uncertain significance 1038226 GRCh37: 12:81102009-81102009
GRCh38: 12:80708230-80708230
18 MYF6 NM_002469.3(MYF6):c.280C>T (p.Arg94Trp) SNV Uncertain significance 1039100 GRCh37: 12:81101778-81101778
GRCh38: 12:80707999-80707999
19 MYF6 NM_002469.3(MYF6):c.683C>T (p.Ser228Leu) SNV Uncertain significance 1043663 GRCh37: 12:81102693-81102693
GRCh38: 12:80708914-80708914
20 DNM2 NM_001005360.2(DNM2):c.1090C>T (p.Arg364Cys) SNV Uncertain significance 560989 rs1568304333 GRCh37: 19:10904493-10904493
GRCh38: 19:10793817-10793817
21 MTMR14 NM_001077525.3(MTMR14):c.1790G>A (p.Arg597Gln) SNV Uncertain significance 619283 rs757795544 GRCh37: 3:9743494-9743494
GRCh38: 3:9701810-9701810
22 DNM2 NM_001005360.2(DNM2):c.633C>T (p.Asp211=) SNV Uncertain significance 327976 rs200191870 GRCh37: 19:10887837-10887837
GRCh38: 19:10777161-10777161
23 MYF6 NM_002469.3(MYF6):c.623T>C (p.Ile208Thr) SNV Uncertain significance 1011466 GRCh37: 12:81102633-81102633
GRCh38: 12:80708854-80708854
24 MYF6 NM_002469.3(MYF6):c.459G>C (p.Gln153His) SNV Uncertain significance 835823 GRCh37: 12:81101957-81101957
GRCh38: 12:80708178-80708178
25 MYF6 NM_002469.3(MYF6):c.691C>G (p.Arg231Gly) SNV Uncertain significance 939601 GRCh37: 12:81102701-81102701
GRCh38: 12:80708922-80708922
26 MYF6 NM_002469.3(MYF6):c.183T>G (p.His61Gln) SNV Uncertain significance 940107 GRCh37: 12:81101681-81101681
GRCh38: 12:80707902-80707902
27 MYF6 NM_002469.3(MYF6):c.281G>A (p.Arg94Gln) SNV Uncertain significance 310507 rs201273759 GRCh37: 12:81101779-81101779
GRCh38: 12:80708000-80708000
28 DNM2 NM_001005360.2(DNM2):c.1418A>T (p.Asp473Val) SNV Uncertain significance 246304 rs766613900 GRCh37: 19:10909244-10909244
GRCh38: 19:10798568-10798568
29 MYF6 NM_002469.3(MYF6):c.184G>A (p.Val62Ile) SNV Uncertain significance 472751 rs190471225 GRCh37: 12:81101682-81101682
GRCh38: 12:80707903-80707903
30 MYF6 NM_002469.3(MYF6):c.575A>C (p.Asp192Ala) SNV Uncertain significance 472758 rs146824657 GRCh37: 12:81102358-81102358
GRCh38: 12:80708579-80708579
31 MYF6 NM_002469.3(MYF6):c.176A>T (p.Glu59Val) SNV Uncertain significance 840187 GRCh37: 12:81101674-81101674
GRCh38: 12:80707895-80707895
32 DNM2 NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu) SNV Uncertain significance 888872 GRCh37: 19:10940925-10940925
GRCh38: 19:10830249-10830249
33 DNM2 NM_001005360.2(DNM2):c.1423-9C>G SNV Uncertain significance 246446 rs371006369 GRCh37: 19:10912955-10912955
GRCh38: 19:10802279-10802279
34 MYF6 NM_002469.3(MYF6):c.334G>T (p.Ala112Ser) SNV Uncertain significance 14153 rs28928909 GRCh37: 12:81101832-81101832
GRCh38: 12:80708053-80708053
35 DNM2 NM_001005360.2(DNM2):c.1354T>G (p.Leu452Val) SNV Uncertain significance 327979 rs770599060 GRCh37: 19:10909180-10909180
GRCh38: 19:10798504-10798504
36 MYF6 NM_002469.3(MYF6):c.587G>A (p.Gly196Glu) SNV Uncertain significance 578567 rs750182640 GRCh37: 12:81102370-81102370
GRCh38: 12:80708591-80708591
37 MYF6 NM_002469.3(MYF6):c.79G>A (p.Val27Met) SNV Uncertain significance 658350 rs147184101 GRCh37: 12:81101577-81101577
GRCh38: 12:80707798-80707798
38 MYF6 NM_002469.3(MYF6):c.334G>T (p.Ala112Ser) SNV Uncertain significance 14153 rs28928909 GRCh37: 12:81101832-81101832
GRCh38: 12:80708053-80708053
39 MYF6 NM_002469.3(MYF6):c.220C>T (p.Pro74Ser) SNV Uncertain significance 853679 GRCh37: 12:81101718-81101718
GRCh38: 12:80707939-80707939
40 MYF6 NM_002469.3(MYF6):c.288A>T (p.Lys96Asn) SNV Uncertain significance 943810 GRCh37: 12:81101786-81101786
GRCh38: 12:80708007-80708007
41 overlap with 4 genes NC_000012.11:g.(?_80128594)_(81102759_?)del Deletion Uncertain significance 583793 GRCh37: 12:80128594-81102759
GRCh38:
42 DNM2 NM_001005360.2(DNM2):c.2031G>A (p.Lys677=) SNV Uncertain significance 327985 rs768285660 GRCh37: 19:10935870-10935870
GRCh38: 19:10825194-10825194
43 DNM2 NM_001005360.2(DNM2):c.-122G>A SNV Uncertain significance 327971 rs886054139 GRCh37: 19:10828797-10828797
GRCh38: 19:10718121-10718121
44 DNM2 NM_001005360.2(DNM2):c.-19G>T SNV Uncertain significance 327972 rs753599004 GRCh37: 19:10828900-10828900
GRCh38: 19:10718224-10718224
45 DNM2 NM_001005360.2(DNM2):c.*88C>G SNV Uncertain significance 328002 rs886054143 GRCh37: 19:10941811-10941811
GRCh38: 19:10831135-10831135
46 DNM2 NM_001005360.2(DNM2):c.1772C>T (p.Thr591Met) SNV Uncertain significance 327983 rs372876881 GRCh37: 19:10930756-10930756
GRCh38: 19:10820080-10820080
47 DNM2 NM_001005360.2(DNM2):c.*550G>A SNV Uncertain significance 328011 rs886054148 GRCh37: 19:10942273-10942273
GRCh38: 19:10831597-10831597
48 DNM2 NM_001005360.2(DNM2):c.-153G>T SNV Uncertain significance 327970 rs886054138 GRCh37: 19:10828766-10828766
GRCh38: 19:10718090-10718090
49 DNM2 NM_001005360.2(DNM2):c.*166G>A SNV Uncertain significance 328004 rs886054145 GRCh37: 19:10941889-10941889
GRCh38: 19:10831213-10831213
50 DNM2 NM_001005360.2(DNM2):c.1493A>G (p.Asn498Ser) SNV Uncertain significance 327982 rs886054140 GRCh37: 19:10913034-10913034
GRCh38: 19:10802358-10802358

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

72 (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 rs155571586
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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.35 MYO1E MYO1C DNM2 BIN1
2 11.12 DNM2 BIN1 AMPH

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 ruffle GO:0001726 9.58 MYO1C MTMR14 MTM1
2 sarcolemma GO:0042383 9.56 RYR1 MYOT FLNC DYSF
3 actin cytoskeleton GO:0015629 9.55 MYOT MYO1E MYO1C BIN1 AMPH
4 RNA polymerase III complex GO:0005666 9.43 POLR2H POLR2F
5 RNA polymerase II, core complex GO:0005665 9.37 POLR2H POLR2F
6 RNA polymerase I complex GO:0005736 9.32 POLR2H POLR2F
7 I band GO:0031674 9.13 RYR1 MTM1 BIN1
8 Z disc GO:0030018 9.02 RYR1 MYOT FLNC DNAJB6 BIN1

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

# Name GO ID Score Top Affiliating Genes
1 endocytosis GO:0006897 9.62 MYO1E DNM2 BIN1 AMPH
2 muscle contraction GO:0006936 9.54 RYR1 MYOT DYSF
3 intermediate filament organization GO:0045109 9.43 MTM1 DNAJB6
4 vesicle transport along actin filament GO:0030050 9.4 MYO1E MYO1C
5 positive regulation of skeletal muscle fiber development GO:0048743 9.26 MYOD1 MYF6
6 T-tubule organization GO:0033292 9.16 DYSF BIN1
7 muscle cell fate commitment GO:0042693 8.96 MYOD1 MYF6
8 positive regulation of gene expression, epigenetic GO:0045815 8.92 POLR2H POLR2F MYO1C BAZ1B

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

# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 9.13 DYSF BIN1 AMPH
2 phosphatidylinositol-3-phosphatase activity GO:0004438 8.62 MTMR14 MTM1

Sources for Myopathy, Centronuclear, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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