" /> Myotilin myopathy - CISMeF





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;

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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.

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29/07/2025


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