Human genes for myofibrillar myopathy 9
Myofibrillar myopathy 9 [DOID:0111188]
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: myofibrillar myopathy 9, DOID:0111188, autosomal dominant distal myopathy with early respiratory failure, Edstrom myopathy, Hereditary inclusion body myopathy with early respiratory failure ...