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. 2002 Dec 10;59(11):1689-93.
doi: 10.1212/01.wnl.0000041631.28557.c6.

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

I Nishino  1 , S Noguchi, K Murayama, A Driss, K Sugie, Y Oya, T Nagata, K Chida, T Takahashi, Y Takusa, T Ohi, J Nishimiya, N Sunohara, E Ciafaloni, M Kawai, M Aoki, I Nonaka
Affiliations

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

I Nishino et al. Neurology. .

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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