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

Naoki Suzuki, Masashi Aoki, Hideki Mizuno, Yoshiaki Onodera, Toshiaki Takahashi, Tetsuya Nagata, Maki Tateyama, Yasuto Itoyama

研究成果: Article査読

3 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)812-814
ページ数3
ジャーナルMuscle and Nerve
32
6
DOI
出版ステータスPublished - 2005 12月

ASJC Scopus subject areas

  • 生理学
  • 臨床神経学
  • 細胞および分子神経科学
  • 生理学(医学)

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