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

Research output: Contribution to journalArticle

2 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)812-814
Number of pages3
JournalMuscle and Nerve
Volume32
Issue number6
DOIs
Publication statusPublished - 2005 Dec 1

Keywords

  • Distal myopathy
  • Dysferlin
  • GNE
  • Late-onset myopathy
  • Rimmed vacuoles

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

Fingerprint Dive into the research topics of 'Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes'. Together they form a unique fingerprint.

Cite this