GNE myopathy in a Chinese male with a novel homozygous mutation

被引：5

作者：

Ban Rui ^{[1
,2
]}

Pu Chuanqiang ^{[1
]}

Wang Huifang ^{[1
]}

Liu Huaxu ^{[1
]}

Shi Qiang ^{[1
]}

Wei Miaomiao ^{[1
,2
]}

Song Haiwen ^{[1
,2
]}

机构：

[1] Chinese Peoples Liberat Army Gen Hosp, Dept Neurogoly, 28 Fuxing Rd, Beijing 100853, Peoples R China

[2] Nankai Univ, Sch Med, 94 Weijin Rd, Tianjin 300071, Peoples R China

来源：

JOURNAL OF CLINICAL NEUROSCIENCE | 2017年 / 39卷

基金：

中国国家自然科学基金;

关键词：

GNE myopathy; Novel mutation; Chinese patient; INCLUSION-BODY MYOPATHY; DISTAL MYOPATHY; RIMMED VACUOLE; KINASE GENE; SPECTRUM;

D O I：

10.1016/j.jocn.2016.12.041

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. (C) 2017 Elsevier Ltd. All rights reserved.

引用

收藏

页码：68 / 72

页数：5

相关论文

共 15 条

[1]

Argov, 2015, ACTA MYOLOGICA, V33, P107

[2] RIMMED VACUOLE MYOPATHY SPARING THE QUADRICEPS - A UNIQUE DISORDER IN IRANIAN JEWS [J].

ARGOV, Z ;

YAROM, R .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1984, 64 (01) :33-43

[3] The hereditary inclusion body myopathy enigma and its future therapy [J].

Argov, Zohar ;

Mitrani-Rosenbaum, Stella .

NEUROTHERAPEUTICS, 2008, 5 (04) :633-637

[4]

Askanas Valerie, 1995, Current Opinion in Rheumatology, V7, P486, DOI 10.1097/00002281-199511000-00005

[5] Mutation Update for GNE Gene Variants Associated with GNE Myopathy [J].

Celeste, Frank V. ;

Vilboux, Thierry ;

Ciccone, Carla ;

de Dios, John Karl ;

Malicdan, May Christine V. ;

Leoyklang, Petcharat ;

McKew, John C. ;

Gahl, William A. ;

Carrillo-Carrasco, Nuria ;

Huizing, Marjan .

HUMAN MUTATION, 2014, 35 (08) :915-926

[6] The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy [J].

Eisenberg, I ;

Avidan, N ;

Potikha, T ;

Hochner, H ;

Chen, M ;

Olender, T ;

Barash, M ;

Shemesh, M ;

Sadeh, M ;

Grabov-Nardini, G ;

Shmilevich, I ;

Friedmann, A ;

Karpati, G ;

Bradley, WG ;

Baumbach, L ;

Lancet, D ;

Ben Asher, E ;

Beckmann, JS ;

Argov, Z ;

Mitrani-Rosenbaum, S .

NATURE GENETICS, 2001, 29 (01) :83-87

[7] GNE myopathy: New name and new mutation nomenclature [J].

Huizing, Marjan ;

Carrillo-Carrasco, Nuria ;

Malicdan, May Christine V. ;

Noguchi, Satoru ;

Gahl, William A. ;

Mitrani-Rosenbaum, Stella ;

Argov, Zohar ;

Nishino, Ichizo .

NEUROMUSCULAR DISORDERS, 2014, 24 (05) :387-389

[8] Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE) [J].

Kayashima, T ;

Matsuo, H ;

Satoh, A ;

Ohta, T ;

Yoshiura, K ;

Matsumoto, N ;

Nakane, Y ;

Niikawa, N ;

Kishino, T .

JOURNAL OF HUMAN GENETICS, 2002, 47 (02) :77-79

[9] UDP-GlcNAc 2-epimerase: A regulator of cell surface sialylation [J].

Keppler, OT ;

Hinderlich, S ;

Langner, J ;

Schwartz-Albiez, R ;

Reutter, W ;

Pawlita, M .

SCIENCE, 1999, 284 (5418) :1372-1376

[10] Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients [J].

Lu, Xianghui ;

Pu, Chuanqiang ;

Huang, Xusheng ;

Liu, Jiexiao ;

Mao, Yanling .

NEUROLOGICAL RESEARCH, 2011, 33 (10) :1025-1031