Metadata | |
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ID | DOID:0111268 |
Name | autosomal recessive hyaline body myopathy |
Definition | A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2. https://www.ncbi.nlm.nih.gov/pubmed/17372140 |
Xrefs | |
Synonyms |
congenital myopathy 7B [EXACT] MSMB [EXACT] Myopathy, myosin storage, autosomal recessive [EXACT] |
Parent Relationships |