Summary Literature (0)

DOID:0111188 - myofibrillar myopathy 9

Disease Ontology 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.

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

Xenbase Genes : ttn


MIM:

MIM:603689 - MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE; MFM9

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee