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This is the first report on mutations of the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE) in Nonaka myopathy or distal myopathy with rimmed vacuoles (OMIM 605820), an autosomal recessive neuromuscular disorder. Sequence and haplotype analyses of GNE in two siblings with Nonaka myopathy from a Japanese family revealed that both patients were compound heterozygotes for a C--&gt;T transition (A460V) in exon 8 and a G--&gt;C transition (V572L) in exon 10. Their parents and a normal elder brother were all carriers for one or the other of the mutations. GNE mutations are known to cause two other disorders: sialuria (OMIM #269921) and autosomal recessive inclusion body myopathy (IBM2, OMIM #600737). Mutations associated with sialuria are located in the epimerase domain, and those associated with IBM2 are in the epimerase or the kinase domain or both, whereas the mutations we observed in the Nonaka myopathy patients were located in the sugar kinase domain of the gene. Thus, Nonaka myopathy is the third disease known to be caused by GNE mutations.

Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)