Congenital myopathy 8

Preferred Label : Congenital myopathy 8;

Symbol : CMYO8;

CISMeF acronym : MYOCOZ;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multiple structured core disease; MSCD; Myopathy, congenital, with structured cores and z-line abnormalities; MYOCOZ;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the actinin alpha-2 gene (ACTN2, 102573.0008);

Laboratory abnormalities : Normal serum creatine kinase;

Prefixed ID : #618654;

Details

Origin ID

618654;

UMLS CUI

C5231445;

Genes related to phenotype
- Actinin, alpha-2 [OMIM gene]
HPO term(s)
- Abnormal Z disc morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cardiomegaly [HPO term]
- Congestive heart failure [HPO term]
- Delayed ability to walk [HPO term]
- Distal muscle weakness [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- High palate [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Internally nucleated skeletal muscle fibers [HPO term]
- Muscle fiber atrophy [HPO term]
- Muscle weakness [HPO term]
- Ophthalmoparesis [HPO term]
- Proximal muscle weakness [HPO term]
- Reduced vital capacity [HPO term]
- Respiratory insufficiency [HPO term]
- Scoliosis [HPO term]
- Type 1 muscle fiber predominance [HPO term]
- Weak extraocular muscles [HPO term]
- Weakness of facial musculature [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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