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myofibrillar myopathy 6
Summary
- 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.
- Super Class
- autosomal dominant disease myofibrillar myopathy
External Links
- Disease Ontology
- DOID:0080097
- MGI genotype (from TogoID)
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95817 | BAG family molecular chaperone regulator 3 |
