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

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.

• Authors: Naoki Suzuki, Masashi Aoki, Hideki Mizuno, Yoshiaki Onodera, Toshiaki Takahashi, Tetsuya Nagata, Maki Tateyama, Yasuto Itoyama
• Journal: Muscle & nerve (Muscle Nerve) Vol. 32 Issue 6 Pg. 812-4 (Dec 2005) ISSN: 0148-639X [Print] United States
• PMID: 16116644 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

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

Topics

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