Case Reports
doi: 10.1002/mus.10391.
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy
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- PMID: 12811782
- DOI: 10.1002/mus.10391
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Case Reports
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy
Muscle Nerve.
2003 Jul.
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.
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