MCID: MYP132
MIFTS: 53

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 58 56
Congenital Myopathy 12 77 54 55 38 30 6 15
Batten-Turner Congenital Myopathy 58
Batten Turner Congenital Myopathy 54
Myopathy - Congenital 55
Myopathy Congenital 54
Myotonia Congenita 74

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
myopathy, congenital:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080100
OMIM 58 255300
KEGG 38 H01810
MedGen 43 C0027127
SNOMED-CT via HPO 70 129565002 258211005 88425004
UMLS 74 C0027127

Summaries for Myopathy, Congenital

NINDS : 55 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, bailey-bloch and cap myopathy. An important gene associated with Myopathy, Congenital is ACTA1 (Actin Alpha 1, Skeletal Muscle), and among its related pathways/superpathways are Cardiac conduction and Dilated cardiomyopathy (DCM). The drugs Mexiletine and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include testes, skeletal muscle and brain, and related phenotypes are myopathy and abnormality of the nervous system

Wikipedia : 77 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, bailey-bloch 33.9 RYR1 STAC3
2 cap myopathy 32.9 ACTA1 TPM3
3 myopathy, congenital, with fiber-type disproportion 32.6 ACTA1 HACD1 MYH7 RYR1 SELENON TPM3
4 central core disease of muscle 32.5 NEB RYR1 SELENON
5 reducing body myopathy 32.2 DMD NEB
6 nemaline myopathy 32.0 ACTA1 NEB TPM3
7 myopathy, centronuclear, 1 32.0 DNM2 RYR1
8 centronuclear myopathy 31.3 DMD DNM2 MTM1 RYR1
9 congenital structural myopathy 31.2 ACTA1 NEB RYR1 SELENON TPM3
10 congenital fiber-type disproportion 31.0 ACTA1 DMD HACD1 ITGA7 MYH7 RYR1
11 rigid spine muscular dystrophy 1 30.9 ACTA1 DMD MYH7 RYR1 SELENON
12 muscle disorders 30.7 RYR1 SELENON TPM3
13 multiminicore disease 30.3 RYR1 SELENON
14 typical congenital nemaline myopathy 30.3 ACTA1 NEB
15 severe congenital nemaline myopathy 30.3 ACTA1 NEB
16 intermediate congenital nemaline myopathy 30.1 ACTA1 NEB TPM3
17 childhood-onset nemaline myopathy 30.1 ACTA1 NEB TPM3
18 myopathy, centronuclear, x-linked 30.1 DNM2 MTM1
19 foot drop 29.8 ACTA1 NEB
20 neuromuscular disease 29.6 DMD MTM1 RYR1
21 malignant hyperthermia 29.5 RYR1 STAC3
22 scoliosis 29.5 DMD RYR1 SELENON
23 central core myopathy 29.3 MTM1 MYH7 RYR1 SELENON
24 muscular dystrophy 29.2 ACTA1 DMD ITGA7 NEB RYR1 SELENON
25 myopathy 29.1 ACTA1 MTM1 MYH7 NEB RYR1 SELENON
26 myopathy, congenital, compton-north 12.3
27 congenital myopathy, paradas type 12.1
28 benign samaritan congenital myopathy 12.1
29 congenital myopathy with myasthenic-like onset 12.1
30 myopathy, congenital, with fiber-type disproportion, x-linked 12.0
31 muscular dystrophy, congenital, megaconial type 11.5
32 myopathy, areflexia, respiratory distress, and dysphagia, early-onset 11.4
33 myopathy, centronuclear, 4 11.3
34 muscular dystrophy, congenital, due to integrin alpha-7 deficiency 11.3
35 malignant hyperthermia 1 11.2
36 myopathy, tubular aggregate, 1 11.2
37 ullrich congenital muscular dystrophy 1 11.2
38 minicore myopathy with external ophthalmoplegia 11.2
39 cylindrical spirals myopathy 11.2
40 carey-fineman-ziter syndrome 11.2
41 neurodevelopmental disorder with hypotonia, neuropathy, and deafness 11.2
42 costello syndrome 11.2
43 muscular dystrophy, becker type 11.1
44 nemaline myopathy 3 11.1
45 myopathy, myosin storage, autosomal dominant 11.0
46 lipodystrophy, congenital generalized, type 4 10.9
47 actin-accumulation myopathy 10.9
48 carnosinemia 10.9
49 mitochondrial myopathy with diabetes 10.9
50 nemaline myopathy 7 10.9

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



Diseases related to Myopathy, Congenital

Symptoms & Phenotypes for Myopathy, Congenital

Human phenotypes related to Myopathy, Congenital:

33
# Description HPO Frequency HPO Source Accession
1 myopathy 33 HP:0003198
2 abnormality of the nervous system 33 HP:0000707

Symptoms via clinical synopsis from OMIM:

58
Neuro:
amyotonia congenita
nonprogressive myopathy

Muscle:
congenital myopathy

Clinical features from OMIM:

255300

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

27 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.7 MTM1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.7 NEB
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.7 MTM1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 9.7 TPM3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.7 DNM2 TPM3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.7 DNM2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.7 MTM1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.7 MTM1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.7 NEB
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.7 TPM3
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.7 MTM1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.7 TPM3
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.7 TPM3
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.7 TPM3
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.7 DNM2 MTM1 NEB TPM3
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.7 DNM2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.7 TPM3
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.7 TPM3
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.7 DNM2 TPM3

MGI Mouse Phenotypes related to Myopathy, Congenital:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 ACTA1 CNTN1 DMD ITGA7 MTM1 NEB
2 growth/size/body region MP:0005378 10.06 ACTA1 CNTN1 DMD DNM2 HACD1 ITGA7
3 homeostasis/metabolism MP:0005376 9.96 ACTA1 DMD DNM2 HACD1 ITGA7 MTM1
4 cardiovascular system MP:0005385 9.91 DMD DNM2 ITGA7 MTM1 MYH7 RYR1
5 mortality/aging MP:0010768 9.85 ACTA1 CNTN1 DMD DNM2 ITGA7 MTM1
6 muscle MP:0005369 9.77 ACTA1 CNTN1 DMD DNM2 HACD1 ITGA7
7 skeleton MP:0005390 9.23 ACTA1 DMD ITGA7 MTM1 NEB RYR1

Drugs & Therapeutics for Myopathy, Congenital

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

(show all 26)
# 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
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
4 Anti-Arrhythmia Agents Phase 3,Phase 2
5 Sodium Channel Blockers Phase 3,Phase 2,Phase 1
6 Diuretics, Potassium Sparing Phase 3,Phase 2,Phase 1
7 Anticonvulsants Phase 3
8 Tranquilizing Agents Phase 3
9 Antipsychotic Agents Phase 3
10 Calcium, Dietary Phase 3
11 Psychotropic Drugs Phase 3
12 Hormones Phase 3
13 calcium channel blockers Phase 3
14 Central Nervous System Depressants Phase 3
15
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
16
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
17 Protective Agents Phase 1, Phase 2
18 Respiratory System Agents Phase 1, Phase 2
19 Anti-Infective Agents Phase 1, Phase 2
20 Free Radical Scavengers Phase 1, Phase 2
21 Expectorants Phase 1, Phase 2
22 N-monoacetylcystine Phase 1, Phase 2
23 Antidotes Phase 1, Phase 2
24 Antiviral Agents Phase 1, Phase 2
25 Antioxidants Phase 1, Phase 2
26
Ranolazine Approved, Investigational Phase 1 142387-99-3, 95635-55-5 56959

Interventional clinical trials:

(show all 16)
# 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 Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders Terminated NCT00839033 Phase 3
4 Combined N-of-1 Trials Mexiletine vs Placebo in Patients With Non-Dystrophic Myotonia (NDM) Completed NCT02045667 Phase 2 Mexiletine;Placebo
5 Antioxidant Therapy in RYR1-Related Congenital Myopathy Completed NCT02362425 Phase 1, Phase 2 N-acetylcysteine;Placebo
6 Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
7 Relations Between Myotonia and Fitness Completed NCT02161835 Not Applicable
8 Characteristics of Nondystrophic Myotonias Completed NCT00244413
9 Aerobic Training in Patients With Congenital Myopathies Completed NCT02020187 Not Applicable
10 Pulmonary Function and Neuromuscular Disease Completed NCT03445832
11 Myotubular Myopathy Genetic Testing Study Completed NCT01817946
12 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
13 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
14 Contractile Cross Sectional Areas and Muscle Strength in Patients With Inherited Muscle Diseases Recruiting NCT03018184
15 Inspiratory Muscle Training in Nemaline Myopathy Recruiting NCT03728803 Not Applicable
16 Muscle Oxygenation in Effort in Neuromuscular Diseases Recruiting NCT02789059 Not Applicable

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 30

Anatomical Context for Myopathy, Congenital

MalaCards organs/tissues related to Myopathy, Congenital:

42
Testes, Skeletal Muscle, Brain, Bone, Eye, Skin

Publications for Myopathy, Congenital

Articles related to Myopathy, Congenital:

(show top 50) (show all 192)
# Title Authors Year
1
Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy. ( 30612914 )
2019
2
Congenital myopathy-related mutations in tropomyosin disrupt regulatory function through altered actin affinity and tropomodulin binding. ( 30768849 )
2019
3
Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4. ( 30824560 )
2019
4
Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy. ( 29769250 )
2019
5
Congenital myasthenic syndrome due to DPAGT1 mutations mimicking congenital myopathy in an Irish family. ( 29356258 )
2018
6
Duplex signaling by CaM and Stac3 enhances Ca<sub>V</sub>1.1 function and provides insights into congenital myopathy. ( 29950399 )
2018
7
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. ( 29858533 )
2018
8
Congenital myopathy with fiber-type disproportion accompanied by dilated cardiomyopathy in a patient with a novel p.G48A ACTA1 mutation. ( 30195123 )
2018
9
Hypotonia at Birth: A Case Study of ACTA-1 Mutation, a Congenital Myopathy. ( 30567918 )
2018
10
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. ( 30168660 )
2018
11
Novel TTN Mutation Causing Congenital Myopathy. ( 29794580 )
2018
12
Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy. ( 30208955 )
2018
13
Bi-allelic mutations in MYL1 cause a severe congenital myopathy. ( 30215711 )
2018
14
Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression. ( 30283817 )
2018
15
Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei. ( 29614691 )
2018
16
Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy. ( 29629541 )
2018
17
Congenital myopathy associated with the triadin knockout syndrome. ( 28202702 )
2017
18
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. ( 27816943 )
2017
19
Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3. ( 28003463 )
2017
20
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. ( 28815944 )
2017
21
Deficiency in Kelch protein Klhl31 causes congenital myopathy in mice. ( 28872460 )
2017
22
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. ( 28540413 )
2017
23
Congenital myopathy due to myosin heavy chain 2 mutation presenting as chronic aspiration pneumonia in infancy. ( 28729039 )
2017
24
Congenital myopathy with &amp;quot;corona&amp;quot; fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A. ( 28262468 )
2017
25
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A. ( 28003497 )
2016
26
A case of congenital myopathy (Nemaline myopathy). ( 27727847 )
2016
27
A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness. ( 27177998 )
2016
28
Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. ( 27484770 )
2016
29
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. ( 28012042 )
2016
30
A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features. ( 27726070 )
2016
31
Structural, functional and molecular dynamics analysis of the native and mutated actin to study its effect on congenital myopathy. ( 27448459 )
2016
32
Use of guidelines when planning home care of a girl with severe congenital myopathy. ( 26776543 )
2016
33
Prevalence and phenotypes of congenital myopathy due to I+-actin 1 gene mutations. ( 26172852 )
2016
34
Aerobic Training in Patients with Congenital Myopathy. ( 26751952 )
2016
35
Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years. ( 27858727 )
2015
36
Aberrant movement of I^-tropomyosin associated with congenital myopathy causes defective response of myosin heads and actin during the ATPase cycle. ( 25978979 )
2015
37
A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease. ( 26001911 )
2015
38
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related &amp;quot;core-rod&amp;quot; congenital myopathy. ( 26403434 )
2015
39
Nocturnal respiratory failure in a child with congenital myopathy - management using average volume-assured pressure support (AVAPS). ( 26392861 )
2015
40
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing. ( 25987458 )
2015
41
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. ( 26700687 )
2015
42
A case of congenital myopathy masquerading as paroxysmal dyskinesia. ( 25506169 )
2014
43
Rasch analysis of the motor function measure in patients with congenital muscle dystrophy and congenital myopathy. ( 24973498 )
2014
44
RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine. ( 24951453 )
2014
45
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy. ( 24507666 )
2014
46
Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. ( 25079567 )
2014
47
Knockdown of cathepsin D in zebrafish fertilized eggs determines congenital myopathy. ( 23464837 )
2013
48
The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal-onset cap myopathy. ( 23804214 )
2013
49
Human congenital myopathy actin mutants cause myopathy and alter Z-disc structure in Drosophila flight muscle. ( 23294764 )
2013
50
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

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 Conflicting interpretations of pathogenicity rs375626634 GRCh37 Chromosome 19, 39008071: 39008071
4 RYR1 NM_000540.2(RYR1): c.9758T> C (p.Ile3253Thr) single nucleotide variant Conflicting interpretations of pathogenicity 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 Conflicting interpretations of pathogenicity rs377178986 GRCh37 Chromosome 19, 39034060: 39034060
12 RYR1 NM_000540.2(RYR1): c.11763C> A (p.Tyr3921Ter) single nucleotide variant Conflicting interpretations of pathogenicity 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.

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 actin cytoskeleton GO:0015629 9.63 ACTA1 NEB TPM3
2 lamellipodium GO:0030027 9.61 ACTA1 DMD DNM2
3 sarcolemma GO:0042383 9.54 DMD RYR1 STAC3
4 filopodium GO:0030175 9.5 ACTA1 DMD MTM1
5 sarcomere GO:0030017 9.43 ACTA1 MYH7 NEB
6 I band GO:0031674 9.4 MTM1 RYR1
7 stress fiber GO:0001725 9.33 ACTA1 MYH7 TPM3
8 myofibril GO:0030016 9.13 DMD MYH7 NEB
9 Z disc GO:0030018 8.92 DMD MYH7 NEB RYR1

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

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.5 DMD ITGA7 NEB
2 regulation of heart rate GO:0002027 9.48 DMD MYH7
3 skeletal muscle contraction GO:0003009 9.46 MYH7 STAC3
4 muscle contraction GO:0006936 9.46 ACTA1 MYH7 RYR1 TPM3
5 muscle cell cellular homeostasis GO:0046716 9.4 DMD MTM1
6 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.37 DMD SELENON
7 skeletal muscle fiber development GO:0048741 9.26 ACTA1 RYR1 SELENON STAC3
8 skeletal muscle tissue regeneration GO:0043403 9.13 DMD
9 muscle filament sliding GO:0030049 9.02 ACTA1 DMD MYH7 NEB TPM3
10 cellular response to caffeine GO:0071313 8.96 RYR1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.73 ACTA1 CNTN1 DMD DNM2 ITGA7 MTM1
2 actin filament binding GO:0051015 9.43 MYH7 NEB TPM3
3 structural constituent of muscle GO:0008307 9.32 DMD NEB
4 myosin binding GO:0017022 9.16 ACTA1 DMD
5 nitric-oxide synthase binding GO:0050998 8.62 DMD DNM2

Sources for Myopathy, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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