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

doi:10.1002/mus.20417

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.

Authors

Naoki Suzuki¹, Masashi Aoki, Hideki Mizuno, Yoshiaki Onodera, Toshiaki Takahashi, Tetsuya Nagata, Maki Tateyama, Yasuto Itoyama

Affiliation

¹ Department of Neurology, Tohoku University School of Medicine, Seiryo-machi, Sendai 980-8574, Japan.

PMID: 16116644
DOI: 10.1002/mus.20417

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.

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*

Substances

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