Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
case_series · Level IV
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- Record sourced from PubMed, PMID 12177386.
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Abstract
The authors present three novel missense mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene, the causative gene for hereditary inclusion body myopathy, in Japanese patients with distal myopathy with rimmed vacuoles. Seven out of nine patients had homozygous V572L mutation, one was a compound heterozygote with C303V and V572L mutations, and the remaining patient bore homozygous A631V mutation.
Medical subject headings
- Carbohydrate Epimerases
- Escherichia coli Proteins
- Muscular Dystrophies
- Mutation, Missense
- Myositis, Inclusion Body
- Phosphotransferases (Alcohol Group Acceptor)
- Vacuoles