MCID: CNG464
MIFTS: 49

Congenital Myopathy malady

Categories: Rare diseases, Genetic diseases, Muscle diseases

Aliases & Classifications for Congenital Myopathy

Aliases & Descriptions for Congenital Myopathy:

Name: Congenital Myopathy 12 50 24 51 14
Myopathy - Congenital 51 29
Batten Turner Congenital Myopathy 50
Myopathy, Congenital 52
Myopathy Congenital 50
Myotonia Congenita 69

Characteristics:

HPO:

32
congenital myopathy:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080100

Summaries for Congenital Myopathy

NINDS : 51 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.

MalaCards based summary : Congenital Myopathy, also known as myopathy - congenital, is related to myopathy and muscular dystrophy, rigid spine, 1, and has symptoms including myopathy and abnormality of the nervous system. An important gene associated with Congenital Myopathy is ACTA1 (Actin, Alpha 1, Skeletal Muscle), and among its related pathways/superpathways are Integrin Pathway and Actin Nucleation by ARP-WASP Complex. The drugs Bezafibrate and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and skin, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 71 Congenital myopathy is a very broad term for any muscle disorder present at birth. This defect primarily... more...

Related Diseases for Congenital Myopathy

Diseases in the Myopathy family:

Congenital Myopathy Gne-Related Myopathy
Benign Autosomal Dominant Myopathy Selenon-Related Myopathy

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

(show top 50) (show all 116)
id Related Disease Score Top Affiliating Genes
1 myopathy 30.7 ACTA1 CFL2 NEB RYR1
2 muscular dystrophy, rigid spine, 1 29.6 ACTA1 DMD MYH7
3 multiminicore disease 29.6 RYR1 SCN4A
4 myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related 29.2 ACTA1 DMD MYH7
5 congenital fiber-type disproportion 11.8
6 congenital myopathy, paradas type 11.8
7 benign samaritan congenital myopathy 11.8
8 congenital myopathy with myasthenic-like onset 11.8
9 costello syndrome 11.6
10 myopathy, congenital, compton-north 11.5
11 native american myopathy 11.5
12 nemaline myopathy 3, autosomal dominant or recessive 11.5
13 cap myopathy 11.3
14 central core disease 11.2
15 muscular dystrophy, congenital, due to itga7 deficiency 11.1
16 myopathy, areflexia, respiratory distress, and dysphagia, early-onset 11.1
17 myopathy, centronuclear 11.1
18 ullrich congenital muscular dystrophy 1 11.0
19 malignant hyperthermia susceptibility 1 11.0
20 myopathy, tubular aggregate, 1 11.0
21 minicore myopathy with external ophthalmoplegia 11.0
22 myopathy, centronuclear, 4 11.0
23 bethlem myopathy 1 10.8
24 myopathy, myosin storage, autosomal dominant 10.8
25 becker muscular dystrophy 10.8
26 centronuclear myopathy 5 10.6
27 immunodeficiency 9 10.6
28 myopathy, tubular aggregate, 2 10.6
29 nemaline myopathy 7, autosomal recessive 10.6
30 nemaline myopathy 10 10.6
31 ullrich congenital muscular dystrophy 2 10.6
32 ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 10.6
33 tpm3-related congenital fiber-type disproportion 10.6
34 actin-accumulation myopathy 10.6
35 nemaline myopathy 10.3
36 iodine antenatal infection 10.2 ACTA1 NEB
37 hypertonia 10.2 ACTA1 NEB
38 short limbs abnormal face congenital heart disease 10.2 ACTA1 NEB
39 chondrodysplasia calcificans metaphysealis 10.2 ACTA1 NEB
40 zebra body myopathy 10.2
41 reducing body myopathy 10.2
42 muscular dystrophy, congenital 10.2
43 premature ovarian failure 5 10.1 RYR1 SCN4A
44 raynaud disease 10.1 RYR1 SCN4A
45 b cell deficiency 10.1 RYR1 SCN4A
46 myelofibrosis 10.1 COL6A3 RYR1
47 undifferentiated pleomorphic sarcoma 10.1 ACTA1 CFL2 NEB
48 myopathy, congenital, with fiber-type disproportion 10.1 ACTA1 MYH7 RYR1
49 pediatric angiosarcoma 10.1 RYR1 SCN4A
50 hypoglossal nerve neoplasm 10.1 ACTA1 CFL2 NEB

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



Diseases related to Congenital Myopathy

Symptoms & Phenotypes for Congenital Myopathy

Human phenotypes related to Congenital Myopathy:

32
id 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 Congenital Myopathy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 ACTA1 CFL2 CNTN1 DMD HRAS ITGA7
2 growth/size/body region MP:0005378 10.02 CFL2 CNTN1 COL6A3 DMD HRAS ITGA7
3 mortality/aging MP:0010768 9.91 ACTA1 CFL2 CNTN1 DMD HRAS ITGA7
4 muscle MP:0005369 9.85 ACTA1 CFL2 CNTN1 COL6A3 DMD ITGA7
5 skeleton MP:0005390 9.5 ACTA1 COL6A3 DMD HRAS ITGA7 NEB
6 vision/eye MP:0005391 9.1 MEGF10 NEB ACTA1 CNTN1 COL6A3 DMD

Drugs & Therapeutics for Congenital Myopathy

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

(show top 50) (show all 98)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved Phase 4 41859-67-0 39042
2
Acetylcholine Approved Phase 4,Phase 3,Phase 2 51-84-3 187
3 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
4 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
5 Anticholesteremic Agents Phase 4,Phase 2
6 Antimetabolites Phase 4,Phase 2
7 Clofibric Acid Phase 4 882-09-7
8 Hypolipidemic Agents Phase 4,Phase 2
9 Lipid Regulating Agents Phase 4,Phase 2
10 abobotulinumtoxinA Phase 4,Phase 3,Phase 2
11 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 2
12 Cholinergic Agents Phase 4,Phase 3,Phase 2
13 incobotulinumtoxinA Phase 4,Phase 3,Phase 2
14 onabotulinumtoxinA Phase 4,Phase 3,Phase 2
15 Botulinum Toxins Phase 4,Phase 3,Phase 2
16 Neuromuscular Agents Phase 4,Phase 3,Phase 2
17
Mexiletine Approved Phase 3,Phase 2 31828-71-4 4178
18
Dichlorphenamide Approved Phase 3 120-97-8 3038
19
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
20 Anti-Arrhythmia Agents Phase 3,Phase 2
21 Diuretics, Potassium Sparing Phase 3,Phase 2
22 Sodium Channel Blockers Phase 3,Phase 2
23 Carbonic Anhydrase Inhibitors Phase 3
24 Anticonvulsants Phase 3
25 calcium channel blockers Phase 3
26 Calcium, Dietary Phase 3,Phase 2
27 Excitatory Amino Acid Antagonists Phase 3
28 Excitatory Amino Acids Phase 3
29 Anesthetics Phase 3
30
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
31
Ranolazine Approved, Investigational Phase 2 142387-99-3, 95635-55-5 56959
32
alemtuzumab Approved, Investigational Phase 2 216503-57-0
33
Busulfan Approved, Investigational Phase 2 55-98-1 2478
34
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
35
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
36
rituximab Approved Phase 2 174722-31-7 10201696
37
Thiotepa Approved Phase 2 52-24-4 5453
38
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
39
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
40
Resveratrol Experimental, Investigational Phase 2 501-36-0, 955365-80-7 24856436 445154
41 Analgesics Phase 2
42 Hemagglutinins Phase 2
43 Pharmaceutical Solutions Phase 2
44 Antidotes Phase 1, Phase 2
45 Anti-Infective Agents Phase 1, Phase 2
46 Antioxidants Phase 1, Phase 2
47 Antiviral Agents Phase 1, Phase 2
48 Expectorants Phase 1, Phase 2
49 N-monoacetylcystine Phase 1, Phase 2
50 Protective Agents Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 84)
id Name Status NCT ID Phase
1 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4
2 Post Marketing Surveillance Study of Dysport Completed NCT00210431 Phase 4
3 Effects of Botulinum Neurotoxin Type A (BoNT/A) Free of Complexing Proteins in the Spastic Equinovarus Foot Recruiting NCT03044080 Phase 4
4 Effects of Functional Electrical Stimulation on Gait in Children With Cerebral Palsy Not yet recruiting NCT02462018 Phase 4
5 Mexiletine and Non Dystrophic Myotonias Completed NCT02336477 Phase 3
6 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dichlorphenamide for Periodic Paralyses and Associated Sodium Channel Disorders Completed NCT00004802 Phase 3
7 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3
8 Efficacy Study of Selective Tibial Neurotomy in the Treatment of the Spastic Equinovarus Foot Among Adult Hemiplegic Patients Completed NCT00825097 Phase 3
9 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Active, not recruiting NCT02604186 Phase 2, Phase 3
10 Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders Terminated NCT00839033 Phase 3
11 Treatment of TNNT1-Myopathy With L-Tyrosine. Unknown status NCT02035501 Phase 2
12 Low Protein Diet in Patients With Collagen VI Related Myopathies Completed NCT01438788 Phase 2
13 Treatment With Xeomin Versus Botox in Children With Spastic Equine and Equinovarus Foot Deformation in Pediatric Cerebral Palsy Completed NCT02188277 Phase 2
14 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2
15 Effects of Power Mobility on Young Children With Severe Motor Impairments Completed NCT01028833 Phase 2
16 Antioxidant Therapy in RYR1-Related Congenital Myopathy Recruiting NCT02362425 Phase 1, Phase 2
17 Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 Recruiting NCT02251457 Phase 2
18 Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy Recruiting NCT02858908 Phase 2
19 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
20 Pediatric Radio Frequency Coils Generic Recruiting NCT01633866 Phase 1, Phase 2
21 Therapeutic Metabolic Intervention in Patients With Spastic Paraplegia SPG5 Active, not recruiting NCT02314208 Phase 2
22 Efficacy of Sialic Acid GNE Related Thrombocytopenia Enrolling by invitation NCT02845609 Phase 2
23 Congenital Muscular Dystrophy Ascending Multiple Dose Cohort Study Analyzing Pharmacokinetics at Three Dose Levels In Children and Adolescents With Assessment of Safety and Tolerability of Omigapil (CALLISTO) Recruiting NCT01805024 Phase 1
24 Hematopoietic Stem Cell Therapy for Patients With Refractory Myasthenia Gravis Terminated NCT00424489 Phase 1
25 T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart Disease Unknown status NCT02350829
26 Flu Vaccine Study in Neuromuscular Patients 2011 Unknown status NCT01422200
27 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Unknown status NCT01306994
28 WREX Outcome Study Unknown status NCT02218593
29 Aerobic Training in Patients With Congenital Myopathies Completed NCT02020187
30 Natural History in CCFDN and IBM Syndromes Completed NCT01902940
31 Myotubular Myopathy Event Study Completed NCT01840657
32 Characteristics of Nondystrophic Myotonias Completed NCT00244413
33 MRI and Muscle Involvement in Patients With Mutations in GMPPB Completed NCT02635321
34 A Study to Test Lung Stretch Therapy (Hyperinsufflation) in Children With Collagen VI Muscular Dystrophy Completed NCT01836627
35 Relations Between Myotonia and Fitness Completed NCT02161835
36 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
37 Neuro-orthopaedic Surgery in the Treatment of the Spastic Equinovarus Foot Completed NCT01265238
38 Treatment of Spastic Equinovarus Foot After Stroke Completed NCT00199589
39 A Randomized Exercise Trial for Wheelchair Users Completed NCT00866112
40 Compare the Medical Conditions of Gulf War Veterans to Non-Deployed Veterans Completed NCT00032461
41 Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis Completed NCT00023075
42 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
43 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
44 Contractile Cross Sectional Areas and Muscle Strength in Patients With Inherited Muscle Diseases Recruiting NCT03018184
45 Muscle Oxygenation in Effort in Neuromuscular Diseases Recruiting NCT02789059
46 Myotubular Myopathy Genetic Testing Study Recruiting NCT01817946
47 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM) Recruiting NCT02057705
48 A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM) Recruiting NCT02231697
49 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
50 Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M Recruiting NCT02830763

Search NIH Clinical Center for Congenital Myopathy

Genetic Tests for Congenital Myopathy

Genetic tests related to Congenital Myopathy:

id Genetic test Affiliating Genes
1 Congenital Myopathy 29 24

Anatomical Context for Congenital Myopathy

MalaCards organs/tissues related to Congenital Myopathy:

39
Skeletal Muscle, Skin

Publications for Congenital Myopathy

Articles related to Congenital Myopathy:

(show top 50) (show all 105)
id Title Authors Year
1
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. ( 27816943 )
2017
2
Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3. ( 28003463 )
2017
3
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A. ( 28003497 )
2016
4
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. ( 28012042 )
2016
5
Use of guidelines when planning home care of a girl with severe congenital myopathy. ( 26776543 )
2016
6
A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features. ( 27726070 )
2016
7
Prevalence and phenotypes of congenital myopathy due to I+-actin 1 gene mutations. ( 26172852 )
2016
8
Aerobic Training in Patients with Congenital Myopathy. ( 26751952 )
2016
9
A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness. ( 27177998 )
2016
10
Structural, functional and molecular dynamics analysis of the native and mutated actin to study its effect on congenital myopathy. ( 27448459 )
2016
11
Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. ( 27484770 )
2016
12
A case of congenital myopathy (Nemaline myopathy). ( 27727847 )
2016
13
Aberrant movement of I^-tropomyosin associated with congenital myopathy causes defective response of myosin heads and actin during the ATPase cycle. ( 25978979 )
2015
14
A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease. ( 26001911 )
2015
15
Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years. ( 27858727 )
2015
16
Nocturnal respiratory failure in a child with congenital myopathy - management using average volume-assured pressure support (AVAPS). ( 26392861 )
2015
17
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy. ( 26403434 )
2015
18
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing. ( 25987458 )
2015
19
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. ( 26700687 )
2015
20
Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. ( 26019235 )
2015
21
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy. ( 24507666 )
2014
22
Rasch analysis of the motor function measure in patients with congenital muscle dystrophy and congenital myopathy. ( 24973498 )
2014
23
RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine. ( 24951453 )
2014
24
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. ( 24692096 )
2014
25
Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. ( 25079567 )
2014
26
A case of congenital myopathy masquerading as paroxysmal dyskinesia. ( 25506169 )
2014
27
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
28
The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal-onset cap myopathy. ( 23804214 )
2013
29
Congenital myopathy with focal loss of cross-striations revisited. ( 23127960 )
2013
30
Human congenital myopathy actin mutants cause myopathy and alter Z-disc structure in Drosophila flight muscle. ( 23294764 )
2013
31
RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. ( 23553787 )
2013
32
Fatigue in patients with spinal muscular atrophy type II and congenital myopathies: evaluation of the fatigue severity scale. ( 24214178 )
2013
33
Knockdown of cathepsin D in zebrafish fertilized eggs determines congenital myopathy. ( 23464837 )
2013
34
Congenital myopathy is caused by mutation of HACD1. ( 23933735 )
2013
35
Respiratory syncytial virus-associated encephalopathy complicated by congenital myopathy. ( 23005904 )
2012
36
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations. ( 22980765 )
2012
37
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms. ( 22798622 )
2012
38
A fatal case of cor pulmonale with undetected chronic hypoventilation in an infant with a known congenital myopathy. ( 22754704 )
2012
39
Dominant mutation of ccdc78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. ( 22818856 )
2012
40
Did giant mitochondria delay muscle maturation? An uncommon congenital myopathy. ( 22693000 )
2012
41
Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. ( 22749829 )
2012
42
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. ( 22371254 )
2012
43
Congenital myopathy caused by a novel missense mutation in the CFL2 gene. ( 22560515 )
2012
44
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. ( 22752422 )
2012
45
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. ( 21267004 )
2011
46
New molecular findings in congenital myopathies due to selenoprotein N gene mutations. ( 20937510 )
2011
47
Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. ( 21911697 )
2011
48
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. ( 21062345 )
2011
49
Prevalence of congenital myopathies in a representative pediatric united states population. ( 22028225 )
2011
50
Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations. ( 21514153 )
2011

Variations for Congenital Myopathy

Expression for Congenital Myopathy

Search GEO for disease gene expression data for Congenital Myopathy.

Pathways for Congenital Myopathy

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

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.98 ACTA1 CFL2 COL6A3 HRAS ITGA7 MYH7
2
Show member pathways
12.55 ACTA1 CFL2 HRAS ITGA7 MYH7
3
Show member pathways
12.51 DMD NEB RYR1 SCN4A
4
Show member pathways
12.44 ACTA1 CFL2 HRAS ITGA7 MYH7
5
Show member pathways
12.07 ACTA1 HRAS MYH7
6
Show member pathways
12.01 CFL2 HRAS MYH7
7
Show member pathways
11.87 DMD ITGA7 MYH7
8
Show member pathways
11.86 ACTA1 DMD HRAS ITGA7
9 11.61 ACTA1 HRAS ITGA7
10
Show member pathways
11.58 ACTA1 CFL2 HRAS ITGA7 MYH7
11 10.99 ACTA1 DMD NEB
12 10.68 ACTA1 DMD

GO Terms for Congenital Myopathy

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

id Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton GO:0015629 9.5 ACTA1 CFL2 NEB
2 sarcomere GO:0030017 9.33 ACTA1 MYH7 NEB
3 I band GO:0031674 9.26 CFL2 RYR1
4 myofibril GO:0030016 9.13 DMD MYH7 NEB
5 Z disc GO:0030018 8.92 CFL2 DMD MYH7 NEB

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

id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.71 CNTN1 COL6A3 ITGA7 MEGF10
2 muscle contraction GO:0006936 9.46 ACTA1 MYH7 RYR1 SCN4A
3 cardiac muscle contraction GO:0060048 9.43 DMD MYH7
4 regulation of heart rate GO:0002027 9.37 DMD MYH7
5 skeletal muscle fiber development GO:0048741 9.32 ACTA1 RYR1
6 muscle cell cellular homeostasis GO:0046716 9.26 CFL2 DMD
7 muscle filament sliding GO:0030049 9.26 ACTA1 DMD MYH7 NEB
8 muscle organ development GO:0007517 9.02 COL6A3 DMD ITGA7 MEGF10 NEB

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

id Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 8.96 DMD NEB
2 myosin binding GO:0017022 8.62 ACTA1 DMD

Sources for Congenital Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....