Catalog

Desmin-related myopathy with Mallory body-like inclusions

No MMS code

Link to WHO Definition

Desmin-related myopathy with Mallory body-like inclusions – http://id.who.int/icd/entity/998522839

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