Term Name: | myofibrillar myopathy 9 |
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Synonyms: | autosomal dominant distal myopathy with early respiratory failure, Edstrom myopathy, Hereditary inclusion body myopathy with early respiratory failure, hereditary myopathy with early respiratory failure, HIBM-ERF, HMERF, MFM-titinopathy, MFM9, MPRM, myofibrillar myopathy 9 with early respiratory failure, Myofibrillar myopathy-titinopathy, proximal myopathy with early respiratory muscle involvement |
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. |
Ontology: | Human Disease [DOID:0111188] ( DOID:0111188 ) |