autosomal dominant hyaline body myopathy

Term ID

DOID:0111269

Synonyms

• congenital myopathy 7A
• MSMA
• myopathy with lysis of type I myofibrils
• Myopathy, myosin storage, autosomal dominant

Definition

A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2. https://www.ncbi.nlm.nih.gov/pubmed/16684601

References

• OMIM:608358

Ontology

Human Disease   ( DOID:0111269 )