CNM1
MCID: MYP123
MIFTS: 54

Myopathy, Centronuclear, 1 (CNM1)

Categories: Bone diseases, 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 56 52 73 29 6
Autosomal Dominant Centronuclear Myopathy 12 52 58 15
Centronuclear Myopathy 1 56 12 15
Ad-Cnm 12 52 58
Cnm1 56 12 73
Centronuclear Myopathy, Autosomal, Modifier of 56 29
Myopathy, Centronuclear, Autosomal Dominant 56 71
Myotubular Myopathy, Autosomal Dominant 56 52
Autosomal Dominant Myotubular Myopathy 73 71
Centronuclear Myopathy Autosomal Dominant 73
Dnm2-Related Centronuclear Myopathy 52
Myopathies, Structural, Congenital 43
Myopathy, Centronuclear, Type 1 39

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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

NIH Rare Diseases : 52 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 myopathy, centronuclear, 4 and myopathy, centronuclear, 6, with fiber-type disproportion, 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, skeletal muscle and testes, 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 : 56 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)

UniProtKB/Swiss-Prot : 73 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 72)
# Related Disease Score Top Affiliating Genes
1 myopathy, centronuclear, 4 32.9 MYF6 MTM1
2 myopathy, centronuclear, 6, with fiber-type disproportion 32.8 MYF6 MTM1
3 centronuclear myopathy 32.6 RYR1 MYF6 MTMR14 MTM1 DYSF DNM2
4 central core disease of muscle 31.4 RYR1 MYOT
5 muscular dystrophy, congenital, lmna-related 31.3 PABPN1 MYOT MYOD1 DYSF
6 ptosis 31.2 RYR1 PABPN1 MTMR14 MTM1 DNM2 BIN1
7 miyoshi muscular dystrophy 31.0 MYOT GNE DYSF
8 peripheral nervous system disease 31.0 RYR1 MTM1 DNM2 AMPH
9 muscular dystrophy 30.9 RYR1 PABPN1 MYOT MYOD1 MYF6 GNE
10 myopathy, centronuclear, 2 30.7 RYR1 MYF6 MTM1 GCN1 DYSF BIN1
11 myopathy 30.7 RYR1 PABPN1 MYOT MYOD1 MYF6 MTMR14
12 myopathy, centronuclear, 5 11.3
13 conventional leiomyosarcoma 10.7 MYOD1 MYF6
14 autosomal dominant distal myopathy 10.6 PABPN1 MYOT
15 muscular dystrophy, limb-girdle, type 1h 10.6 MYOT DNAJB6
16 peliosis hepatis 10.6 MTM1 DNM2
17 central core myopathy 10.6 RYR1 MTM1 DNM2
18 cerebellopontine angle meningioma 10.6 SETD1A AMPH
19 congenital structural myopathy 10.6 RYR1 MYOT MTM1
20 muscular dystrophy, limb-girdle, autosomal recessive 7 10.6 MYOT DYSF
21 myopathy, myofibrillar, 2 10.6 MYOT FLNC DNAJB6
22 autosomal recessive limb-girdle muscular dystrophy type 2j 10.6 MYOT DYSF
23 myopathy, myofibrillar, 1 10.6 MYOT FLNC DNAJB6
24 autosomal recessive limb-girdle muscular dystrophy type 2q 10.6 MYOT DYSF DNAJB6
25 autosomal recessive limb-girdle muscular dystrophy type 2x 10.6 MYOT DYSF
26 muscular dystrophy-dystroglycanopathy , type c, 9 10.6 MYOT DYSF DNAJB6
27 autosomal recessive limb-girdle muscular dystrophy 10.6 MYOT GNE DYSF
28 autosomal recessive limb-girdle muscular dystrophy type 2h 10.6 MYOT DYSF
29 muscular dystrophy, limb-girdle, autosomal dominant 2 10.6 MYOT DYSF DNAJB6
30 muscular dystrophy, limb-girdle, autosomal dominant 3 10.6 MYOT DNAJB6
31 muscular dystrophy, limb-girdle, autosomal dominant 1 10.6 MYOT DYSF DNAJB6
32 autosomal recessive limb-girdle muscular dystrophy type 2c 10.6 MYOT DYSF
33 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.6 MYOT MYOD1 DYSF
34 muscular dystrophy, becker type 10.6 MYOT MYOD1 DYSF
35 autosomal recessive limb-girdle muscular dystrophy type 2l 10.6 MYOT DYSF
36 autosomal recessive limb-girdle muscular dystrophy type 2f 10.6 MYOT DYSF
37 myopathy, myofibrillar, 3 10.6 MYOT FLNC DYSF
38 reducing body myopathy 1a 10.5 MYOT FLNC
39 rigid spine muscular dystrophy 1 10.5 RYR1 MYOT DYSF
40 myopathy, myofibrillar, 4 10.5 MYOT FLNC
41 bethlem myopathy 1 10.5 RYR1 MYOT DYSF
42 myopathy, myofibrillar, 9, with early respiratory failure 10.5 MYOT GNE FLNC DNAJB6
43 myopathy, congenital 10.5 RYR1 MTM1 DYSF DNM2
44 inclusion body myositis 10.5 PABPN1 GNE DYSF
45 isolated elevated serum creatine phosphokinase levels 10.5 RYR1 MYOT GNE DYSF
46 autosomal dominant limb-girdle muscular dystrophy 10.5 MYOT FLNC DYSF DNAJB6
47 limb-girdle muscular dystrophy 10.5 MYOT FLNC DYSF DNAJB6
48 tibial muscular dystrophy 10.5 MYOT GNE FLNC DYSF
49 autosomal recessive limb-girdle muscular dystrophy type 2g 10.5 MYOT DYSF
50 facioscapulohumeral muscular dystrophy 1 10.5 PABPN1 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 40)
# 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 delayed gross motor development 58 31 frequent (33%) Frequent (79-30%) HP:0002194
11 thin ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000883
12 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
13 spontaneous abortion 58 31 frequent (33%) Frequent (79-30%) HP:0005268
14 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
15 macrocephaly at birth 58 31 frequent (33%) Frequent (79-30%) HP:0004488
16 abnormality of the foot musculature 58 31 frequent (33%) Frequent (79-30%) HP:0001436
17 muscle fibrillation 58 31 frequent (33%) Frequent (79-30%) HP:0010546
18 mildly elevated creatine kinase 31 frequent (33%) HP:0008180
19 respiratory insufficiency due to muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002747
20 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
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 flexion contracture 31 HP:0001371
33 hyperlordosis 31 HP:0003307
34 motor delay 31 HP:0001270
35 easy fatigability 31 HP:0003388
36 facial palsy 31 HP:0010628
37 areflexia 31 HP:0001284
38 mildly elevated creatine phosphokinase 58 Frequent (79-30%)
39 proximal muscle weakness 31 HP:0003701
40 sleepy facial expression 31 HP:0005335

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to Myopathy, Centronuclear, 1:


ophthalmoparesis, facial paresis

MGI Mouse Phenotypes related to Myopathy, Centronuclear, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 BAZ1B BIN1 DNM2 DYSF FLNC GNE
2 cardiovascular system MP:0005385 9.96 BAZ1B BIN1 DNM2 FLNC GNE MTM1
3 mortality/aging MP:0010768 9.8 AMPH BAZ1B BIN1 DNAJB6 DNM2 FLNC
4 muscle MP:0005369 9.44 BAZ1B BIN1 DNM2 DYSF FLNC GNE

Drugs & Therapeutics for Myopathy, Centronuclear, 1

Interventional clinical trials:

(show all 12)
# 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 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies Unknown status NCT03351270
4 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Unknown status NCT01403402
5 The RECENSUS Study: A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM) Completed NCT02231697
6 INCEPTUS: A Prospective, Non-Interventional Clinical Assessment Study in X Linked Myotubular Myopathy (XLMTM) Subjects Aged 3 Years and Younger Completed NCT02704273
7 Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM) Completed NCT02453152
8 Prospective Study of Adverse Event Rates in Males With X-Linked Myotubular Myopathy Completed NCT01840657
9 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM) Completed NCT02057705
10 Myotubular Myopathy Genetic Testing Study Completed NCT01817946
11 Myotubular and Centronuclear Myopathy Patient Registry Recruiting NCT04064307
12 Molecular Analysis of Neuromuscular Disease Recruiting NCT00272883

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, Testes

Publications for Myopathy, Centronuclear, 1

Articles related to Myopathy, Centronuclear, 1:

(show all 15)
# Title Authors PMID Year
1
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. 56 6
17008356 2006
2
Mutations in dynamin 2 cause dominant centronuclear myopathy. 6 56
16227997 2005
3
Clinical utility gene card for: Centronuclear and myotubular myopathies. 6
22617344 2012
4
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. 56
22396310 2012
5
A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation. 56
19122038 2009
6
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. 56
17932957 2007
7
Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy. 6
11053684 2000
8
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. 56
8544184 1995
9
Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies. 56
7935525 1994
10
[Centronuclear myopathy with autosomal dominant inheritance(author's transl)]. 56
1150240 1975
11
Centronuclear myopathy with autosomal dominant inheritance. 56
5016690 1972
12
Type I muscle fibre atrophy and central nuclei. A rare familial neuromuscular disease. 56
4910660 1970
13
Myotubular myopathy. Persistence of fetal muscle in an adolescent boy. 56
4954227 1966
14
Bio-economic and operational feasibility of introducing oestrus synchronization and artificial insemination in simulated smallholder sheep breeding programmes. 61
29143721 2018
15
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 107) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYOD1 NM_002478.5(MYOD1):c.557dup (p.Arg188fs)duplication Pathogenic 631486 11:17741881-17741882 11:17720334-17720335
2 DNM2 NM_001005360.2(DNM2):c.1106G>A (p.Arg369Gln)SNV Pathogenic 7279 rs121909089 19:10904509-10904509 19:10793833-10793833
3 DNM2 NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp)SNV Pathogenic 7280 rs121909090 19:10904508-10904508 19:10793832-10793832
4 DNM2 NM_001005360.2(DNM2):c.1393C>T (p.Arg465Trp)SNV Pathogenic 7281 rs121909091 19:10909219-10909219 19:10798543-10798543
5 DNM2 NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys)SNV Pathogenic 7282 rs121909092 19:10904505-10904505 19:10793829-10793829
6 DNM2 NM_001005360.2(DNM2):c.1565G>A (p.Arg522His)SNV Pathogenic 158514 rs587783595 19:10922947-10922947 19:10812271-10812271
7 DNM2 NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu)SNV Pathogenic/Likely pathogenic 7285 rs121909095 19:10934538-10934538 19:10823862-10823862
8 DNM2 NM_001005361.3(DNM2):c.625C>T (p.Leu209=)SNV Conflicting interpretations of pathogenicity 702869 19:10887829-10887829 19:10777153-10777153
9 DNM2 NM_001005361.3(DNM2):c.1782-6C>TSNV Conflicting interpretations of pathogenicity 767138 19:10934458-10934458 19:10823782-10823782
10 MTMR14 NM_001077525.3(MTMR14):c.1144C>T (p.Arg382Trp)SNV Conflicting interpretations of pathogenicity 809415 3:9726911-9726911 3:9685227-9685227
11 DNM2 NM_001005360.2(DNM2):c.497G>A (p.Arg166Gln)SNV Conflicting interpretations of pathogenicity 664504 19:10886490-10886490 19:10775814-10775814
12 DNM2 NM_001005360.2(DNM2):c.235+12C>ASNV Conflicting interpretations of pathogenicity 158524 rs147026993 19:10870499-10870499 19:10759823-10759823
13 DNM2 NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn)SNV Conflicting interpretations of pathogenicity 158529 rs150613209 19:10897348-10897348 19:10786672-10786672
14 DNM2 NM_001005360.2(DNM2):c.190G>A (p.Val64Ile)SNV Conflicting interpretations of pathogenicity 133978 rs144250390 19:10870442-10870442 19:10759766-10759766
15 DNM2 NM_001005360.2(DNM2):c.890G>A (p.Arg297His)SNV Conflicting interpretations of pathogenicity 327977 rs763894364 19:10897280-10897280 19:10786604-10786604
16 DNM2 NM_001005360.2(DNM2):c.1384A>G (p.Thr462Ala)SNV Conflicting interpretations of pathogenicity 327980 rs201575500 19:10909210-10909210 19:10798534-10798534
17 DNM2 NM_001005360.2(DNM2):c.162-9C>ASNV Conflicting interpretations of pathogenicity 327973 rs200736669 19:10870405-10870405 19:10759729-10759729
18 DNM2 NM_001005360.2(DNM2):c.2418G>A (p.Ala806=)SNV Conflicting interpretations of pathogenicity 327989 rs200968756 19:10940929-10940929 19:10830253-10830253
19 DNM2 NM_001005360.2(DNM2):c.2179C>T (p.His727Tyr)SNV Conflicting interpretations of pathogenicity 327987 rs142963320 19:10939832-10939832 19:10829156-10829156
20 DNM2 NM_001005360.2(DNM2):c.1773G>A (p.Thr591=)SNV Conflicting interpretations of pathogenicity 327984 rs201604679 19:10930757-10930757 19:10820081-10820081
21 DNM2 NM_001005360.2(DNM2):c.633C>T (p.Asp211=)SNV Conflicting interpretations of pathogenicity 327976 rs200191870 19:10887837-10887837 19:10777161-10777161
22 DNM2 NM_001005360.2(DNM2):c.2031G>A (p.Lys677=)SNV Conflicting interpretations of pathogenicity 327985 rs768285660 19:10935870-10935870 19:10825194-10825194
23 DNM2 NM_001005360.2(DNM2):c.1354T>G (p.Leu452Val)SNV Uncertain significance 327979 rs770599060 19:10909180-10909180 19:10798504-10798504
24 DNM2 NM_001005360.2(DNM2):c.2560G>T (p.Ala854Ser)SNV Uncertain significance 327991 rs886054141 19:10941670-10941670 19:10830994-10830994
25 DNM2 NM_001005360.2(DNM2):c.*82C>TSNV Uncertain significance 328001 rs569502521 19:10941805-10941805 19:10831129-10831129
26 DNM2 NM_001005360.2(DNM2):c.*106T>CSNV Uncertain significance 328003 rs886054144 19:10941829-10941829 19:10831153-10831153
27 DNM2 NM_001005360.2(DNM2):c.*166G>ASNV Uncertain significance 328004 rs886054145 19:10941889-10941889 19:10831213-10831213
28 DNM2 NM_001005360.2(DNM2):c.*711T>CSNV Uncertain significance 328014 rs886054149 19:10942434-10942434 19:10831758-10831758
29 DNM2 NM_001005360.2(DNM2):c.-122G>ASNV Uncertain significance 327971 rs886054139 19:10828797-10828797 19:10718121-10718121
30 DNM2 NM_001005360.2(DNM2):c.-19G>TSNV Uncertain significance 327972 rs753599004 19:10828900-10828900 19:10718224-10718224
31 DNM2 NM_001005360.2(DNM2):c.*550G>ASNV Uncertain significance 328011 rs886054148 19:10942273-10942273 19:10831597-10831597
32 DNM2 NM_001005360.2(DNM2):c.*79G>ASNV Uncertain significance 328000 rs550692861 19:10941802-10941802 19:10831126-10831126
33 DNM2 NM_001005360.2(DNM2):c.*391C>TSNV Uncertain significance 328009 rs886054147 19:10942114-10942114 19:10831438-10831438
34 DNM2 NM_001005360.2(DNM2):c.*88C>GSNV Uncertain significance 328002 rs886054143 19:10941811-10941811 19:10831135-10831135
35 DNM2 NM_001005360.2(DNM2):c.2561C>T (p.Ala854Val)SNV Uncertain significance 327992 rs776073354 19:10941671-10941671 19:10830995-10830995
36 DNM2 NM_001005360.2(DNM2):c.1493A>G (p.Asn498Ser)SNV Uncertain significance 327982 rs886054140 19:10913034-10913034 19:10802358-10802358
37 DNM2 NM_001005360.2(DNM2):c.1772C>T (p.Thr591Met)SNV Uncertain significance 327983 rs372876881 19:10930756-10930756 19:10820080-10820080
38 DNM2 NM_001005360.2(DNM2):c.-153G>TSNV Uncertain significance 327970 rs886054138 19:10828766-10828766 19:10718090-10718090
39 DNM2 NM_001005360.2(DNM2):c.1418A>T (p.Asp473Val)SNV Uncertain significance 246304 rs766613900 19:10909244-10909244 19:10798568-10798568
40 DNM2 NM_001005360.2(DNM2):c.1423-9C>GSNV Uncertain significance 246446 rs371006369 19:10912955-10912955 19:10802279-10802279
41 DNM2 NM_004945.3(DNM2):c.1798G>A (p.Glu600Lys)SNV Uncertain significance 694734 19:10934492-10934492 19:10823816-10823816
42 DNM2 NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)SNV Uncertain significance 890988 19:10909198-10909198 19:10798522-10798522
43 DNM2 NM_001005361.3(DNM2):c.-116C>TSNV Uncertain significance 892101 19:10828803-10828803 19:10718127-10718127
44 DNM2 NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn)SNV Uncertain significance 888711 19:10893755-10893755 19:10783079-10783079
45 DNM2 NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr)SNV Uncertain significance 888712 19:10893770-10893770 19:10783094-10783094
46 MTM1 NM_000252.2(MTM1):c.1533C>A (p.Asn511Lys)SNV Uncertain significance 634542 rs1569565536 X:149831971-149831971 X:150663498-150663498
47 DNM2 NM_001005360.2(DNM2):c.1090C>T (p.Arg364Cys)SNV Uncertain significance 560989 rs1568304333 19:10904493-10904493 19:10793817-10793817
48 DNM2 NM_001005360.2(DNM2):c.197G>A (p.Arg66Gln)SNV Uncertain significance 562194 rs1568283807 19:10870449-10870449 19:10759773-10759773
49 MTMR14 NM_001077525.3(MTMR14):c.1790G>A (p.Arg597Gln)SNV Uncertain significance 619283 rs757795544 3:9743494-9743494 3:9701810-9701810
50 MYF6 NM_002469.3(MYF6):c.334G>T (p.Ala112Ser)SNV Uncertain significance 14153 rs28928909 12:81101832-81101832 12:80708053-80708053

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
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 11.1 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 cytoplasm GO:0005737 10.24 RYR1 PABPN1 MYOT MYOD1 MYO1E MYO1C
2 actin cytoskeleton GO:0015629 9.65 MYOT MYO1E MYO1C BIN1 AMPH
3 ruffle GO:0001726 9.58 MYO1C MTMR14 MTM1
4 T-tubule GO:0030315 9.5 RYR1 DYSF BIN1
5 sarcolemma GO:0042383 9.46 RYR1 MYOT FLNC DYSF
6 I band GO:0031674 9.13 RYR1 MTM1 BIN1
7 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 positive regulation of myoblast differentiation GO:0045663 9.48 MYOD1 MYF6
3 positive regulation of myoblast fusion GO:1901741 9.46 MYOD1 MYF6
4 intermediate filament organization GO:0045109 9.43 MTM1 DNAJB6
5 vesicle transport along actin filament GO:0030050 9.4 MYO1E MYO1C
6 muscle fiber development GO:0048747 9.37 FLNC DYSF
7 positive regulation of skeletal muscle fiber development GO:0048743 9.26 MYOD1 MYF6
8 T-tubule organization GO:0033292 9.16 DYSF BIN1
9 muscle cell fate commitment GO:0042693 8.96 MYOD1 MYF6
10 muscle contraction GO:0006936 8.92 RYR1 PABPN1 MYOT DYSF

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.19 SETD1A RYR1 PABPN1 MYOT MYOD1 MYO1E
2 phospholipid binding GO:0005543 9.33 DYSF BIN1 AMPH
3 RNA polymerase binding GO:0070063 8.96 PABPN1 BIN1
4 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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