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Metadata
ID	DOID:0051045
Name	myofibrillar myopathy 13 with rimmed vacuoles
Definition	A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24. https://pubmed.ncbi.nlm.nih.gov/31403083/
Xrefs	MIM:621078
Parent Relationships	is_a myofibrillar myopathy is_a autosomal dominant disease
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance