Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes

✍ Scribed by Naoki Suzuki; Masashi Aoki; Hideki Mizuno; Yoshiaki Onodera; Toshiaki Takahashi; Tetsuya Nagata; Maki Tateyama; Yasuto Itoyama

• Publisher: John Wiley and Sons
• Year: 2005
• Tongue: English
• Weight: 112 KB
• Volume: 32
• Category: Article
• ISSN: 0148-639X
• DOI: 10.1002/mus.20417

✦ Synopsis

Abstract

We report two brothers from a Japanese family with a late‐onset 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 genes were excluded. We speculate that dysferlin is involved in the pathogenesis of the myopathy in these patients, which may represent a new disease entity presenting as a distal myopathy. Muscle Nerve, 2005