Immune-mediated rippling muscle disease

被引：17
|
作者：
Schulte-Mattler, WJ
Kley, RA
Rothenfusser-Korber, E
Böhm, S
Brüning, T
Hackemann, J
Steinbrecher, A
Düring, MV
Voss, B
Vorgerd, M
机构：
[1] Kliniken Bergmannsheil, Dept Neurol, Neuromuscular Ctr Ruhrgebiet, D-44789 Bochum, Germany
[2] Univ Regensburg, Dept Neurol, D-8400 Regensburg, Germany
[3] Ruhr Univ Bochum, BGFA, Dept Mol Cell Biol, D-4630 Bochum, Germany
[4] Ruhr Univ Bochum, Inst Neuroanat, D-4630 Bochum, Germany
来源：
NEUROLOGY | 2005年 / 64卷 / 02期
关键词：
D O I：
10.1212/01.WNL.0000149532.52938.5B
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
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.
引用
收藏
页码：364 / 367
页数：4
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