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autosomal recessive hyaline body myopathy
Summary
- Synonym
-
- MSMB
- Myopathy, myosin storage, autosomal recessive
- congenital myopathy 7B
- Definition
- A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2.
- Super Class
- autosomal recessive disease hyaline body myopathy
External Links
- Disease Ontology
- DOID:0111268
- Mondo Disease Ontology
- OMIM
