Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes.
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.
Suzuki
Naoki
N
Department of Neurology, Tohoku University School of Medicine, Seiryo-machi, Sendai 980-8574, Japan.
Aoki
Masashi
M
Mizuno
Hideki
H
Onodera
Yoshiaki
Y
Takahashi
Toshiaki
T
Nagata
Tetsuya
T
Tateyama
Maki
M
Itoyama
Yasuto
Y
D000328:Adult; D049310:Distal Myopathies / Q000235:genetics* / Q000473:pathology*; D000073939:Dysferlin; D005192:Family Health; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009097:Multienzyme Complexes / Q000235:genetics*; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation; D014617:Vacuoles / Q000473:pathology*
C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009097:Multienzyme Complexes; D009124:Muscle Proteins; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase