| description | Protein which, if defective, causes myofibrillar myopathy, a group of morphologically homogeneous, but genetically heterogeneous neuromuscular disorders. The morphologic changes in skeletal muscle result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc. Clinical manifestations are variable and can involve the skeletal, cardiac and smooth muscle |
Ontology Term --> All ancestors
Ontology Term --> All descendants
Ontology Term --> Direct children
Ontology Term --> Direct parents
