| Metadata | |
|---|---|
| ID | DOID:0111188 |
| Name | myofibrillar myopathy 9 |
| Definition | A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. https://www.ncbi.nlm.nih.gov/pubmed/15802564, https://www.ncbi.nlm.nih.gov/pubmed/23486992 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant distal myopathy with early respiratory failure [EXACT] Edstrom myopathy [EXACT] Hereditary inclusion body myopathy with early respiratory failure [EXACT] hereditary myopathy with early respiratory failure [EXACT] HIBM-ERF [EXACT] HMERF [EXACT] MFM-titinopathy [EXACT] MFM9 [EXACT] MPRM [EXACT] myofibrillar myopathy 9 with early respiratory failure [EXACT] Myofibrillar myopathy-titinopathy [EXACT] proximal myopathy with early respiratory muscle involvement [EXACT] |
| Parent Relationships |