Desmin-related myopathy with Mallory body-like inclusions (Q102551): Difference between revisions
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Transtornos musculares familiares ou esporádicos morfologicamente definidos por agregados intrassarcoplasmáticos de desmina, o filamento intermediário de células musculares, embora várias outras proteínas se acumulem nesses transtornos. A apresentação semelhante ao corpo de Mallory caracteriza-se por hipotonia neonatal, fraqueza muscular axial e proximal, escoliose e níveis de creatinoquinase normais ou levemente elevados. É definida pela presença, em aproximadamente 10% das fibras musculares, de placas hialinas desprovidas de qualquer atividade enzimática como NADH, SDH ou ATPase, que corresponderiam em nível ultraestrutural a inclusões intramiofibrilares peculiares. | |||
| description / en | description / en | ||
Familial or sporadic muscle disorders morphologically defined by intrasarcoplasmic aggregates of desmin, the intermediate filament of muscle cells, although several other proteins accumulate in these disorders. The Mallory body-like form presented with neonatal hypotonia, axial and proximal muscle weakness, scoliosis, and normal or mildly elevated creatine kinase levels. It is defined by the presence, in approximately 10% of muscle fibres, of hyaline plaques devoid of any enzyme activity such as NADH, SDH, or ATPase, that corresponded at the ultrastructural level to peculiar intramyofibrillar inclusions | |||
Revision as of 19:37, 16 August 2026
Familial or sporadic muscle disorders morphologically defined by intrasarcoplasmic aggregates of desmin, the intermediate filament of muscle cells, although several other proteins accumulate in these disorders. The Mallory body-like form presented with neonatal hypotonia, axial and proximal muscle weakness, scoliosis, and normal or mildly elevated creatine kinase levels. It is defined by the presence, in approximately 10% of muscle fibres, of hyaline plaques devoid of any enzyme activity such as NADH, SDH, or ATPase, that corresponded at the ultrastructural level to peculiar intramyofibrillar inclusions
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_998522839 |
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| English | Desmin-related myopathy with Mallory body-like inclusions |
Familial or sporadic muscle disorders morphologically defined by intrasarcoplasmic aggregates of desmin, the intermediate filament of muscle cells, although several other proteins accumulate in these disorders. The Mallory body-like form presented with neonatal hypotonia, axial and proximal muscle weakness, scoliosis, and normal or mildly elevated creatine kinase levels. It is defined by the presence, in approximately 10% of muscle fibres, of hyaline plaques devoid of any enzyme activity such as NADH, SDH, or ATPase, that corresponded at the ultrastructural level to peculiar intramyofibrillar inclusions |
