title: GNE myopathy in a Chinese male with a novel homozygous mutation.
abstract: GNE myopathy is a rare autosomal recessive inheritance disease due to the mutation of GNE gene. To date, 107 mutations have been reported in different populations worldwide in GNE gene(HGMD Professional 2016.2). Here we report a patient of novel homozygous GNE gene mutation from China.
authors.affiliation: Department of Neurogoly, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, PR China; Medical School, Nankai University, 94 Weijin Road, Tianjin 300071, PR China.
authors.forename: Ban
authors.initials: B
authors.lastname: Rui
authors.affiliation: Department of Neurogoly, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, PR China. Electronic address: pucq30128@sina.cn.
authors.forename: Pu
authors.initials: P
authors.lastname: Chuanqiang
authors.affiliation: Department of Neurogoly, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, PR China.
authors.forename: Wang
authors.initials: W
authors.lastname: Huifang
authors.affiliation: Department of Neurogoly, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, PR China.
authors.forename: Liu
authors.initials: L
authors.lastname: Huaxu
authors.affiliation: Department of Neurogoly, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, PR China.
authors.forename: Shi
authors.initials: S
authors.lastname: Qiang
authors.affiliation: Department of Neurogoly, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, PR China; Medical School, Nankai University, 94 Weijin Road, Tianjin 300071, PR China.
authors.forename: Wei
authors.initials: W
authors.lastname: Miaomiao
authors.affiliation: Department of Neurogoly, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, PR China; Medical School, Nankai University, 94 Weijin Road, Tianjin 300071, PR China.
authors.forename: Song
authors.initials: S
authors.lastname: Haiwen
mesh_terms: D044466:Asian People / Q000235:genetics*; D002681:China; D049310:Distal Myopathies / Q000175:diagnosis* / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D009097:Multienzyme Complexes / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D055815:Young Adult
chemical_list: D009097:Multienzyme Complexes; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase
keywords: Chinese patient; GNE myopathy; Novel mutation