Myotilin myopathy (Q84632)

Myotilin myopathy is a myofibrillar muscle disorder characterised by dissolution associated with accumulation of myofibrillar degradation products and ectopic expression of multiple proteins. Ultrastructural studies implicate the Z-disk as the site of the initial pathologic change, and mutations in two Z-disk-related proteins, desmin and alphaB-crystallin, have been identified in a minority of patients with myofibrillar myopathy. Peripheral neuropathy, cardiomyopathy, and distal weakness greater than proximal weakness are part of the spectrum of myotilinopathy, whereas not all cases of myotilinopathy have a limb-girdle phenotype.