MCID: MYP132
MIFTS: 54

Myopathy, Congenital

Categories: Bone diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Congenital

MalaCards integrated aliases for Myopathy, Congenital:

Name: Myopathy, Congenital 57 55
Congenital Myopathy 12 76 53 54 37 29 6 15
Batten-Turner Congenital Myopathy 57
Batten Turner Congenital Myopathy 53
Myopathy - Congenital 54
Myopathy Congenital 53
Myotonia Congenita 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
myopathy, congenital:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 255300
Disease Ontology 12 DOID:0080100
MedGen 42 C0027127
KEGG 37 H01810
SNOMED-CT via HPO 69 258211005 88425004 129565002
UMLS 73 C0027127

Summaries for Myopathy, Congenital

NINDS : 54 A myopathy is a disorder of the muscles that usually results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be "floppy," have difficulty breathing or feeding, and will lag behind other babies in meeting normal developmental milestones such as turning over or sitting up. Muscle weakness can occur for many reasons, including a problem with the muscle, a problem with the nerve that stimulates the muscle, or a problem with the brain. Therefore, to diagnose a congenital myopathy, a neurologist will perform a detailed physical exam as well as tests to determine the cause of weakness. If a myopathy is suspected, possible tests include a blood test for a muscle enzyme called creatine kinase, an electromyogram (EMG) to evaluate the electrical activity of the muscle, a muscle biopsy, and genetic testing. There are currently seven distinct types of congenital myopathy, with some variation in symptoms, complications, treatment options, and outlook. Nemaline myopathy is the most common congenital myopathy. Infants usually have problems with breathing and feeding. Later, some skeletal problems may arise, such as scoliosis (curvature of the spine). In general, the weakness does not worsen during life. Myotubular myopathy is rare and only affects boys. Weakness and floppiness are so severe that a mother may notice reduced movements of the baby in her womb during pregnancy. There are usually significant breathing and swallowing difficulties; many children do not survive infancy. Osteopenia (weakening of the bones) is also associated with this disorder. Centronuclear myopathy is rare and begins in infancy or early childhood with weakness of the arms and legs, droopy eyelids, and problems with eye movements. Weakness often gets worse with time. Central core disease varies among children with regard to the severity of problems and the degree of worsening over time. Usually, there is mild floppiness in infancy, delayed milestones, and moderate limb weakness, which do not worsen much over time. Children with central core disease may have life-threatening reactions to general anesthesia. Treatment with the drug salbutamol has been shown to reduce weakness significantly, although it does not cure the disorder. Multi-minicore disease has several different subtypes. Common to most is severe weakness of the limbs and scoliosis. Often breathing difficulties occur as well. Some children have weakened eye movements. Congenital fiber-type disproportion myopathy is a rare disorder that begins with floppiness, limb and facial weakness, and breathing problems. Hyaline body myopathy is a disorder characterized by the specific appearance under the microscope of a sample of muscle tissue. It probably includes several different causes. Because of this, the symptoms are quite variable.

MalaCards based summary : Myopathy, Congenital, also known as congenital myopathy, is related to myopathy, congenital, with fiber-type disproportion and cap myopathy. An important gene associated with Myopathy, Congenital is ACTA1 (Actin, Alpha 1, Skeletal Muscle), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. The drugs Mexiletine and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and skeletal muscle, and related phenotypes are myopathy and abnormality of the nervous system

Wikipedia : 76 Congenital myopathy is a very broad term for any muscle disorder present at birth. This defect primarily... more...

Description from OMIM: 255300

Related Diseases for Myopathy, Congenital

Diseases in the Myopathy family:

Myopathy Due to Malate-Aspartate Shuttle Defect Myopathy, Congenital
Gne-Related Myopathy Benign Autosomal Dominant Myopathy

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

(show top 50) (show all 146)
# Related Disease Score Top Affiliating Genes
1 myopathy, congenital, with fiber-type disproportion 33.2 ACTA1 HACD1 MYH7 RYR1 SELENON TPM3
2 cap myopathy 32.7 ACTA1 TPM3
3 reducing body myopathy 32.1 DMD NEB
4 central core disease of muscle 32.1 GAA NEB RYR1 SELENON
5 myopathy, centronuclear, 1 32.0 DNM2 RYR1
6 nemaline myopathy 31.8 ACTA1 NEB TNNT1 TPM3
7 congenital fiber-type disproportion 31.6 ACTA1 DMD DYSF HACD1 ITGA7 MYH7
8 congenital structural myopathy 31.3 ACTA1 NEB RYR1 SELENON TNNT1 TPM3
9 centronuclear myopathy 31.0 DMD DNM2 MTM1 RYR1
10 muscle disorders 30.5 RYR1 SELENON TPM3
11 rigid spine muscular dystrophy 1 30.2 ACTA1 DMD DYSF GAA MYH7 RYR1
12 multiminicore disease 30.2 RYR1 SELENON
13 typical congenital nemaline myopathy 30.1 ACTA1 NEB
14 severe congenital nemaline myopathy 30.1 ACTA1 NEB
15 intermediate congenital nemaline myopathy 30.1 ACTA1 NEB TPM3
16 childhood-onset nemaline myopathy 30.1 ACTA1 NEB TPM3
17 myopathy, centronuclear, x-linked 30.0 DNM2 MTM1
18 foot drop 29.8 ACTA1 NEB
19 central core myopathy 29.7 MTM1 MYH7 RYR1 SELENON
20 restrictive cardiomyopathy 29.5 ACTA1 MYH7 TNNT1
21 neuromuscular disease 29.2 DMD GAA MTM1 RYR1
22 myopathy 29.0 ACTA1 DYSF GAA MTM1 MYH7 NEB
23 muscular dystrophy 28.5 ACTA1 DMD DYSF GAA ITGA7 NEB
24 myopathy, congenital, compton-north 12.3
25 myopathy, congenital, bailey-bloch 12.1
26 congenital myopathy, paradas type 12.0
27 benign samaritan congenital myopathy 12.0
28 congenital myopathy with myasthenic-like onset 12.0
29 myopathy, congenital, with fiber-type disproportion, x-linked 12.0
30 neurodevelopmental disorder with hypotonia, neuropathy, and deafness 11.7
31 myopathy, areflexia, respiratory distress, and dysphagia, early-onset 11.3
32 myopathy, centronuclear, 4 11.2
33 malignant hyperthermia 1 11.2
34 myopathy, tubular aggregate, 1 11.2
35 ullrich congenital muscular dystrophy 1 11.2
36 minicore myopathy with external ophthalmoplegia 11.2
37 cylindrical spirals myopathy 11.2
38 muscular dystrophy white matter spongiosis 11.2
39 carey-fineman-ziter syndrome 11.2
40 costello syndrome 11.1
41 muscular dystrophy, congenital, megaconial type 11.1
42 muscular dystrophy, becker type 11.0
43 nemaline myopathy 3 11.0
44 myopathy, myosin storage, autosomal dominant 11.0
45 muscular dystrophy, congenital, due to integrin alpha-7 deficiency 10.9
46 lipodystrophy, congenital generalized, type 4 10.9
47 actin-accumulation myopathy 10.9
48 carnosinemia 10.9
49 nemaline myopathy 7 10.9
50 immunodeficiency 9 10.9

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



Diseases related to Myopathy, Congenital

Symptoms & Phenotypes for Myopathy, Congenital

Symptoms via clinical synopsis from OMIM:

57
Neuro:
amyotonia congenita
nonprogressive myopathy

Muscle:
congenital myopathy


Clinical features from OMIM:

255300

Human phenotypes related to Myopathy, Congenital:

32
# Description HPO Frequency HPO Source Accession
1 myopathy 32 HP:0003198
2 abnormality of the nervous system 32 HP:0000707

MGI Mouse Phenotypes related to Myopathy, Congenital:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 ACTA1 CNTN1 DMD DYSF GAA HRAS
2 growth/size/body region MP:0005378 10.18 ACTA1 CNTN1 DMD DNM2 GAA HACD1
3 homeostasis/metabolism MP:0005376 10.1 ACTA1 DMD DNM2 DYSF GAA HACD1
4 muscle MP:0005369 10.06 ACTA1 CNTN1 DMD DNM2 DYSF GAA
5 cardiovascular system MP:0005385 10.01 DMD DNM2 GAA HRAS ITGA7 MTM1
6 mortality/aging MP:0010768 10 ACTA1 CNTN1 DMD DNM2 HRAS ITGA7
7 no phenotypic analysis MP:0003012 9.5 DMD DYSF HRAS MTM1 MYH7 TNNT1
8 skeleton MP:0005390 9.28 ACTA1 DMD GAA HRAS ITGA7 MTM1

Drugs & Therapeutics for Myopathy, Congenital

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mexiletine Approved, Investigational Phase 3,Phase 2 31828-71-4 4178
2
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
3 Diuretics, Potassium Sparing Phase 3,Phase 2
4 Anti-Arrhythmia Agents Phase 3,Phase 2
5 Sodium Channel Blockers Phase 3,Phase 2
6 Calcium, Dietary Phase 3
7 Excitatory Amino Acid Antagonists Phase 3
8 Neurotransmitter Agents Phase 3
9 calcium channel blockers Phase 3
10 Anticonvulsants Phase 3
11 Excitatory Amino Acids Phase 3
12
Ranolazine Approved, Investigational Phase 2 142387-99-3, 95635-55-5 56959
13
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Mexiletine and Non Dystrophic Myotonias Completed NCT02336477 Phase 3 Mexiletine;placebo
2 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3 Lamotrigine;Placebo
3 Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 2 Ranolazine
4 Combined N-of-1 Trials Mexiletine vs Placebo in Patients With Non-Dystrophic Myotonia (NDM) Completed NCT02045667 Phase 2 Mexiletine;Placebo
5 Relations Between Myotonia and Fitness Completed NCT02161835 Not Applicable
6 Characteristics of Nondystrophic Myotonias Completed NCT00244413
7 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
8 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Myopathy, Congenital

Genetic Tests for Myopathy, Congenital

Genetic tests related to Myopathy, Congenital:

# Genetic test Affiliating Genes
1 Congenital Myopathy 29

Anatomical Context for Myopathy, Congenital

MalaCards organs/tissues related to Myopathy, Congenital:

41
Bone, Testes, Skeletal Muscle, Brain, Eye, Skin

Publications for Myopathy, Congenital

Articles related to Myopathy, Congenital:

(show top 50) (show all 188)
# Title Authors Year
1
Congenital myasthenic syndrome due to DPAGT1 mutations mimicking congenital myopathy in an Irish family. ( 29356258 )
2018
2
Duplex signaling by CaM and Stac3 enhances Ca<sub>V</sub>1.1 function and provides insights into congenital myopathy. ( 29950399 )
2018
3
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. ( 29858533 )
2018
4
Congenital myopathy with fiber-type disproportion accompanied by dilated cardiomyopathy in a patient with a novel p.G48A ACTA1 mutation. ( 30195123 )
2018
5
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. ( 30168660 )
2018
6
Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy. ( 30208955 )
2018
7
Bi-allelic mutations in MYL1 cause a severe congenital myopathy. ( 30215711 )
2018
8
Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression. ( 30283817 )
2018
9
Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei. ( 29614691 )
2018
10
Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy. ( 29629541 )
2018
11
Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy. ( 29769250 )
2018
12
Novel TTN Mutation Causing Congenital Myopathy. ( 29794580 )
2018
13
Congenital myopathy associated with the triadin knockout syndrome. ( 28202702 )
2017
14
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. ( 27816943 )
2017
15
Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3. ( 28003463 )
2017
16
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. ( 28815944 )
2017
17
Deficiency in Kelch protein Klhl31 causes congenital myopathy in mice. ( 28872460 )
2017
18
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. ( 28540413 )
2017
19
Congenital myopathy due to myosin heavy chain 2 mutation presenting as chronic aspiration pneumonia in infancy. ( 28729039 )
2017
20
Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A. ( 28262468 )
2017
21
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A. ( 28003497 )
2016
22
A case of congenital myopathy (Nemaline myopathy). ( 27727847 )
2016
23
A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness. ( 27177998 )
2016
24
Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. ( 27484770 )
2016
25
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. ( 28012042 )
2016
26
A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features. ( 27726070 )
2016
27
Structural, functional and molecular dynamics analysis of the native and mutated actin to study its effect on congenital myopathy. ( 27448459 )
2016
28
Use of guidelines when planning home care of a girl with severe congenital myopathy. ( 26776543 )
2016
29
Prevalence and phenotypes of congenital myopathy due to I+-actin 1 gene mutations. ( 26172852 )
2016
30
Aerobic Training in Patients with Congenital Myopathy. ( 26751952 )
2016
31
Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years. ( 27858727 )
2015
32
Aberrant movement of I^-tropomyosin associated with congenital myopathy causes defective response of myosin heads and actin during the ATPase cycle. ( 25978979 )
2015
33
A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease. ( 26001911 )
2015
34
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related &amp;quot;core-rod&amp;quot; congenital myopathy. ( 26403434 )
2015
35
Nocturnal respiratory failure in a child with congenital myopathy - management using average volume-assured pressure support (AVAPS). ( 26392861 )
2015
36
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing. ( 25987458 )
2015
37
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. ( 26700687 )
2015
38
A case of congenital myopathy masquerading as paroxysmal dyskinesia. ( 25506169 )
2014
39
Rasch analysis of the motor function measure in patients with congenital muscle dystrophy and congenital myopathy. ( 24973498 )
2014
40
RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine. ( 24951453 )
2014
41
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy. ( 24507666 )
2014
42
Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. ( 25079567 )
2014
43
Knockdown of cathepsin D in zebrafish fertilized eggs determines congenital myopathy. ( 23464837 )
2013
44
The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal-onset cap myopathy. ( 23804214 )
2013
45
Human congenital myopathy actin mutants cause myopathy and alter Z-disc structure in Drosophila flight muscle. ( 23294764 )
2013
46
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. ( 23800289 )
2013
47
Congenital myopathy is caused by mutation of HACD1. ( 23933735 )
2013
48
Congenital myopathy with focal loss of cross-striations revisited. ( 23127960 )
2013
49
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. ( 22752422 )
2012
50
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations. ( 22980765 )
2012

Variations for Myopathy, Congenital

ClinVar genetic disease variations for Myopathy, Congenital:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR1 NM_000540.2(RYR1): c.2122G> A (p.Asp708Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs138874610 GRCh37 Chromosome 19, 38948887: 38948887
2 RYR1 NM_000540.2(RYR1): c.2122G> A (p.Asp708Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs138874610 GRCh38 Chromosome 19, 38458247: 38458247
3 RYR1 NM_000540.2(RYR1): c.9758T> C (p.Ile3253Thr) single nucleotide variant Benign rs375626634 GRCh37 Chromosome 19, 39008071: 39008071
4 RYR1 NM_000540.2(RYR1): c.9758T> C (p.Ile3253Thr) single nucleotide variant Benign rs375626634 GRCh38 Chromosome 19, 38517431: 38517431
5 RYR1 NM_000540.2(RYR1): c.2677G> A (p.Gly893Ser) single nucleotide variant Likely benign rs147336515 GRCh37 Chromosome 19, 38954162: 38954162
6 RYR1 NM_000540.2(RYR1): c.2677G> A (p.Gly893Ser) single nucleotide variant Likely benign rs147336515 GRCh38 Chromosome 19, 38463522: 38463522
7 RYR1 NM_000540.2(RYR1): c.2956C> T (p.Arg986Cys) single nucleotide variant Uncertain significance rs150993059 GRCh37 Chromosome 19, 38956816: 38956816
8 RYR1 NM_000540.2(RYR1): c.2956C> T (p.Arg986Cys) single nucleotide variant Uncertain significance rs150993059 GRCh38 Chromosome 19, 38466176: 38466176
9 RYR1 NM_000540.2(RYR1): c.4405C> T (p.Arg1469Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs200546266 GRCh37 Chromosome 19, 38968461: 38968461
10 RYR1 NM_000540.2(RYR1): c.4405C> T (p.Arg1469Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs200546266 GRCh38 Chromosome 19, 38477821: 38477821
11 RYR1 NM_000540.2(RYR1): c.11763C> A (p.Tyr3921Ter) single nucleotide variant Pathogenic rs377178986 GRCh37 Chromosome 19, 39034060: 39034060
12 RYR1 NM_000540.2(RYR1): c.11763C> A (p.Tyr3921Ter) single nucleotide variant Pathogenic rs377178986 GRCh38 Chromosome 19, 38543420: 38543420
13 RYR1 NM_000540.2(RYR1): c.13505A> G (p.Glu4502Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs139647387 GRCh37 Chromosome 19, 39057618: 39057618
14 RYR1 NM_000540.2(RYR1): c.13505A> G (p.Glu4502Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs139647387 GRCh38 Chromosome 19, 38566978: 38566978
15 RYR1 NM_000540.2(RYR1): c.14468C> T (p.Thr4823Met) single nucleotide variant Uncertain significance rs148540135 GRCh37 Chromosome 19, 39070725: 39070725
16 RYR1 NM_000540.2(RYR1): c.14468C> T (p.Thr4823Met) single nucleotide variant Uncertain significance rs148540135 GRCh38 Chromosome 19, 38580085: 38580085
17 MYH7 NM_000257.3(MYH7): c.452C> T (p.Pro151Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs730880837 GRCh37 Chromosome 14, 23901898: 23901898
18 MYH7 NM_000257.3(MYH7): c.452C> T (p.Pro151Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs730880837 GRCh38 Chromosome 14, 23432689: 23432689
19 ACTA1 NM_001100.3(ACTA1): c.808G> C (p.Gly270Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121909525 GRCh37 Chromosome 1, 229567741: 229567741
20 ACTA1 NM_001100.3(ACTA1): c.808G> C (p.Gly270Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121909525 GRCh38 Chromosome 1, 229431994: 229431994

Expression for Myopathy, Congenital

Search GEO for disease gene expression data for Myopathy, Congenital.

Pathways for Myopathy, Congenital

Pathways related to Myopathy, Congenital according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.55 ACTA1 HRAS ITGA7 MYH7 SPTBN4
2
Show member pathways
12.31 ACTA1 HRAS ITGA7 MYH7
3
Show member pathways
12.16 DMD DYSF NEB RYR1 TNNT1 TPM3
4
Show member pathways
12.03 ACTA1 DMD HRAS ITGA7
5
Show member pathways
11.69 DMD ITGA7 MYH7 TPM3
6
Show member pathways
11.68 CNTN1 DNM2 SPTBN4
7 11.66 ACTA1 HRAS ITGA7
8 11.35 ACTA1 HRAS ITGA7
9 11.1 ACTA1 HRAS ITGA7 MYH7
10 10.88 ACTA1 DMD NEB TNNT1 TPM3
11 10.71 ACTA1 DMD

GO Terms for Myopathy, Congenital

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.95 ACTA1 DMD DNM2 NEB SPTBN4 TPM3
2 sarcolemma GO:0042383 9.61 DMD DYSF RYR1
3 extracellular exosome GO:0070062 9.61 ACTA1 CNTN1 DNM2 DYSF GAA NEB
4 filopodium GO:0030175 9.58 ACTA1 DMD MTM1
5 lamellipodium GO:0030027 9.56 ACTA1 DMD DNM2 DYSF
6 sarcomere GO:0030017 9.54 ACTA1 MYH7 NEB
7 stress fiber GO:0001725 9.5 ACTA1 MYH7 TPM3
8 I band GO:0031674 9.46 MTM1 RYR1
9 myofibril GO:0030016 9.33 DMD MYH7 NEB
10 Z disc GO:0030018 8.92 DMD MYH7 NEB RYR1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.65 DMD ITGA7 NEB
2 skeletal muscle contraction GO:0003009 9.54 MYH7 TNNT1
3 skeletal muscle fiber development GO:0048741 9.54 ACTA1 RYR1 SELENON
4 regulation of the force of heart contraction GO:0002026 9.52 GAA MYH7
5 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.51 DMD SELENON
6 skeletal muscle tissue regeneration GO:0043403 9.5 DMD DYSF SELENON
7 striated muscle contraction GO:0006941 9.49 GAA MYH7
8 muscle fiber development GO:0048747 9.46 DMD DYSF
9 cardiac muscle contraction GO:0060048 9.46 DMD GAA MYH7 TNNT1
10 transition between fast and slow fiber GO:0014883 9.43 MYH7 TNNT1
11 muscle cell cellular homeostasis GO:0046716 9.43 DMD GAA MTM1
12 muscle contraction GO:0006936 9.43 ACTA1 DYSF MYH7 RYR1 TNNT1 TPM3
13 cellular response to caffeine GO:0071313 9.4 RYR1 SELENON
14 muscle filament sliding GO:0030049 9.1 ACTA1 DMD MYH7 NEB TNNT1 TPM3

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.56 DMD MYH7 SPTBN4 TPM3
2 protein binding GO:0005515 9.5 ACTA1 CNTN1 DMD DNM2 DYSF HRAS
3 myosin binding GO:0017022 9.32 ACTA1 DMD
4 nitric-oxide synthase binding GO:0050998 9.16 DMD DNM2
5 structural constituent of cytoskeleton GO:0005200 9.13 ACTA1 DMD SPTBN4

Sources for Myopathy, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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