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Metadata
ID DOID:0111269
Name autosomal dominant hyaline body myopathy
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
Xrefs

MIM:608358

Synonyms

congenital myopathy 7A [EXACT]

MSMA [EXACT]

myopathy with lysis of type I myofibrils [EXACT]

Myopathy, myosin storage, autosomal dominant [EXACT]

Parent Relationships

is_a hyaline body myopathy

is_a autosomal dominant disease

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