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Metadata
ID	DOID:0080097
Name	myofibrillar myopathy 6
Definition	A myofibrillar myopathy that is characterized by onset in the first decade of progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. https://pubmed.ncbi.nlm.nih.gov/22734908/
Xrefs	MIM:612954
Synonyms	BAG3-related myofibrillar myopathy [RELATED]
Parent Relationships	is_a myofibrillar myopathy is_a autosomal dominant disease