myofibrillar myopathy 9 (DOID:0111188)
Alliance: disease page
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; MFM9; MFM-titinopathy; MPRM; myofibrillar myopathy 9 with early respiratory failure; Myofibrillar myopathy-titinopathy; proximal myopathy with early respiratory muscle involvement
Alt IDs: OMIM:603689, ORDO:178464
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.