Late-onset distal myopathy with rimmed v
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Naoki Suzuki; Masashi Aoki; Hideki Mizuno; Yoshiaki Onodera; Toshiaki Takahashi;
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Article
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2005
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John Wiley and Sons
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English
β 112 KB
## Abstract We report two brothers from a Japanese family with a lateβonset distal myopathy characterized by rimmed vacuoles and dysferlin deficiency with no inflammatory infiltration and dystrophic changes in muscle biopsy. Mutations in the __GNE__, dysferlin, caveolin 3, emerin, and lamin A/C gen