Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family

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• 作者：Andrea Stober ; Angelo Aleo ; Valerio Kuhl ; Antje Bornemann ; Maggie C. Walter ; Hanns Lochmü ; ller ; Alfred Lindner ; Sabine Krause
• 关键词：GNE ; UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase ; Hereditary inclusion-body myopathy ; hIBM ; DMRV
• 刊名：Neuromuscular Disorders
• 出版年：2010
• 出版时间：May 2010
• 年：2010
• 卷：20
• 期：5
• 页码：335-336
• 全文大小：199 K

文摘

Autosomal-recessive hereditary inclusion-body myopathy with relative quadriceps sparing is associated with mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Two Italian sisters affected with autosomal-recessive hIBM were shown to be compound heterozygous for a novel GNE mutation: a p.A310P amino acid change along with a p.R246W mutation on the second allele both in the epimerase domain. This is the first mutation event observed in a human GNE allele inducing a proline. Muscle biopsy showed abundant rimmed and non-rimmed vacuoles. Severe disease progression was noted in the elder sister. The Italian family further expands the wide phenotypic and genotypic spectrum of hIBM.