Term Name: myofibrillar myopathy 9
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 )

Relationships
is a type of: myofibrillar myopathy