Myotilin myopathy (Q84632): Difference between revisions
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A Miopatia por acúmulo de miotilina é um transtorno muscular miofibrilar caracterizado pelo acúmulo de produtos de degradação miofibrilar e expressão ectópica de proteínas múltiplas. Estudos ultraestruturais implicam o disco Z como o local da mudança patológica inicial, e mutações em duas proteínas relacionadas ao disco Z, desmina e alfaB-cristalina, foram identificadas em uma minoria de pacientes com miopatia miofibrilar. Neuropatia periférica, cardiomiopatia e fraqueza distal maior que fraqueza proximal fazem parte do espectro da miotilinopatia, ao passo que nem todos os casos de miotilinopatia têm um fenótipo de cinturas. | |||
| description / en | description / en | ||
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. | |||
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. |
