myofibrillar myopathy 6

Term ID

DOID:0080097

Synonyms

• BAG3-related myofibrillar myopathy

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/

References

• MIM:612954

Ontology

Human Disease   ( DOID:0080097 )