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Muscle Nerve. 2003 Jul;28(1):113-7.

Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.

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  • 1Dipartimento di Scienze Neurologiche, Centro Dino Ferrari, Universit√† degli Studi di Milano, IRCCS Ospedale Maggiore Policlinico, Via F Sforza 35, Milano 20122, Italy.

Abstract

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene is the causative gene for autosomal-recessive hereditary inclusion-body myopathy (h-IBM). Two sisters affected with autosomal-recessive h-IBM were shown to be compound heterozygous for two novel GNE mutations: a large deletion involving exons 1-9, and a R162C amino acid change in the epimerase domain. This is the first deletion event observed in a GNE allele and expands the molecular pathogenesis of autosomal-recessive h-IBM.

Copyright 2003 Wiley Periodicals, Inc.

PMID:
12811782
[PubMed - indexed for MEDLINE]
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