hyaline body myopathy

Term ID

DOID:0111267

Synonyms

myosin storage myopathy

Definition

A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2. https://www.ncbi.nlm.nih.gov/pubmed/22918376

References

GARD:7148
ORDO:53698

Ontology

Human Disease ( DOID:0111267 )

Relationships

is a type of: congenital myopathy

congenital myopathy Show first 5 Terms
has subtype: autosomal dominant hyaline body myopathy autosomal recessive hyaline body myopathy

autosomal dominant hyaline body myopathy autosomal recessive hyaline body myopathy Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations