Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy - PubMed (original) (raw)
. 2002 Dec 10;59(11):1689-93.
doi: 10.1212/01.wnl.0000041631.28557.c6.
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
- PMID: 12473753
- DOI: 10.1212/01.wnl.0000041631.28557.c6
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy
I Nishino et al. Neurology. 2002.
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.
Comment in
- Sweetening the pot in muscle: genetic defects of protein glycosylation causing muscle disease.
Karpati G, Holland P. Karpati G, et al. Neurology. 2002 Dec 10;59(11):1674-6. doi: 10.1212/01.wnl.0000041160.67746.f6. Neurology. 2002. PMID: 12473751 Review. No abstract available. - Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
Hinderlich S, Salama I, Eisenberg I, Mitrani-Rosenbaum S. Hinderlich S, et al. Neurology. 2003 Jul 8;61(1):145; author reply 145. doi: 10.1212/wnl.61.1.145. Neurology. 2003. PMID: 12847185 No abstract available.
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