Journal
MUSCLE & NERVE
Volume 28, Issue 1, Pages 113-117Publisher
JOHN WILEY & SONS INC
DOI: 10.1002/mus.10391
Keywords
ARh-IBM; GNE gene; large deletion; missense mutation; muscle biopsy
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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.
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