Desmin-related myopathy with Mallory body-like inclusions (Q102551)
From determinar.ia.br - Determine suas informações
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 |
||
| 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 |
