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NEUROLOGY 2005;64:364-367
© 2005 American Academy of Neurology
Brief Communications

Immune-mediated rippling muscle disease

W. J. Schulte-Mattler, MD, R. A. Kley, MD, E. Rothenfußer-Korber, MD, S. Böhm, T. Brüning, MD, J. Hackemann, MSc, A. Steinbrecher, MD, M. v. Düring, MD, B. Voss, PhD and M. Vorgerd, MD

From the Department of Neurology (Drs. Schulte-Mattler, Rothenfußer-Korber, and Steinbrecher), University of Regensburg; and Department of Neurology, Kliniken Bergmannsheil, Neuromuscular Center Ruhrgebiet (Drs. Kley and Vorgerd), BGFA, Department of Molecular Cell Biology (Drs. Voss and Brüning, S. Böhm), Institute for Neuroanatomy (Dr. M. v. Düring, J. Hackemann), Ruhr-University, Bochum, Germany.

Address correspondence and reprint requests to Dr. Matthias Vorgerd, Department of Neurology, Kliniken Bergmannsheil, Neuromuscular Center Ruhrgebiet, Bürkle-de-la-Camp-Platz 1, D-44789 Bochum, Germany; e-mail: matthias.vorgerd{at}ruhr-uni-bochum.de

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.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the January 25 issue to find the title link for this article.

Received May 1, 2004. Accepted in final form September 7, 2004.






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