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Case Reports
. 2005 Jan 25;64(2):364-7.
doi: 10.1212/01.WNL.0000149532.52938.5B.

Immune-mediated rippling muscle disease

W J Schulte-Mattler  1 , R A Kley, E Rothenfusser-Korber, S Böhm, T Brüning, J Hackemann, A Steinbrecher, M V Düring, B Voss, M Vorgerd
Affiliations
Case Reports

Immune-mediated rippling muscle disease

W J Schulte-Mattler et al. Neurology. .

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.

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