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Distal myopathy with rimmed vacuoles: Novel mutations in the GNE gene

13 Aug 2002

Abstract excerpt

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...

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Identifiers

PMID: 12177386
DOI: 10.1212/wnl.59.3.451

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Distal myopathy with rimmed vacuoles: Novel mutations in the GNE genePMID 12177386Read ↗

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