autosomal recessive hyaline body myopathy

Term ID

DOID:0111268

Synonyms

• congenital myopathy 7B
• MSMB
• Myopathy, myosin storage, autosomal recessive

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

References

• OMIM:255160

Ontology

Human Disease   ( DOID:0111268 )