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

Muscle Nerve. 2005 Dec;32(6):812-4. doi: 10.1002/mus.20417.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Distal Myopathies / genetics*
  • Distal Myopathies / pathology*
  • Dysferlin
  • Family Health
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Multienzyme Complexes / genetics*
  • Muscle Proteins / genetics*
  • Mutation*
  • Vacuoles / pathology*


  • DYSF protein, human
  • Dysferlin
  • Membrane Proteins
  • Multienzyme Complexes
  • Muscle Proteins
  • UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase