Preferred Label : Myotilin myopathy;
ICD-11 definition : Myotilin myopathy is a myofibrillar muscle disorder characterized 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.;
ICD-11 synonym : Myotilinopathy;
Origin ID : 524213229;
Automatic exact mappings (from CISMeF team)
Myotilin myopathy is a myofibrillar muscle disorder characterized 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.
