Myotilin myopathy (Q84632): Difference between revisions
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Revision as of 09:58, 15 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_524213229 |
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| English | Myotilin myopathy |
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. |
