Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy |
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Authors: | Nishino I Noguchi S Murayama K Driss A Sugie K Oya Y Nagata T Chida K Takahashi T Takusa Y Ohi T Nishimiya J Sunohara N Ciafaloni E Kawai M Aoki M Nonaka I |
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Institution: | Department of Neuromuscular Research, National Institute of Neuroscience, Kodaira, Tokyo, Japan. nishino@ncnp.go.jp |
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Abstract: | BACKGROUND: Distal myopathy with rimmed vacuoles (DMRV) is an autosomal-recessive disorder with preferential involvement of the tibialis anterior muscle that starts in young adulthood and spares quadriceps muscles. The disease locus has been mapped to chromosome 9p1-q1, the same region as the hereditary inclusion body myopathy (HIBM) locus. HIBM was originally described as rimmed vacuole myopathy sparing the quadriceps; therefore, the two diseases have been suspected to be allelic. Recently, HIBM was shown to be associated with the mutations in the gene encoding the bifunctional enzyme, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). OBJECTIVE: To determine whether DMRV and HIBM are allelic. METHODS: The GNE gene was sequenced in 34 patients with DMRV. The epimerase activity in lymphocytes from eight DMRV patients was also measured. RESULTS: The authors identified 27 unrelated DMRV patients with homozygous or compound-heterozygous mutations in the GNE gene. DMRV patients had markedly decreased epimerase activity. CONCLUSIONS: DMRV is allelic to HIBM. Various mutations are associated with DMRV in Japan. The loss-of-function mutations in the GNE gene appear to cause DMRV/HIBM. |
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