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Neurology. 2002 Dec 10;59(11):1689-93.

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

Author information

1
Department of Neuromuscular Research, National Institute of Neuroscience, Kodaira, Tokyo, Japan. nishino@ncnp.go.jp

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.

PMID:
12473753
[Indexed for MEDLINE]
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