Immune-mediated rippling muscle disease.
case_report · Level V
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Abstract
The authors report a 44-year-old man with rippling muscle disease (RMD) who does not have a mutation in the caveolin-3 gene. Immunohistochemistry of the muscle biopsy revealed a marked reduction of caveolin-3 and a mosaic pattern of dysferlin immunostaining. Ultrastructural studies showed a loss of caveolae and alterations of the triad. Autoantibodies were directed against the sarcolemma, triad, and several unknown muscle proteins.