GNE myopathy in a Chinese male with a novel homozygous mutation期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

GNE myopathy in a Chinese male with a novel homozygous mutation

Affiliation:	1. Department of Neurogoly, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, PR China;2. Medical School, Nankai University, 94 Weijin Road, Tianjin 300071, PR China;1. Department of Neurology, Rhode Island Hospital, 593 Eddy St., Providence, RI 02903, USA;2. Warren Alpert Medical School, Brown University, 222 Richmond St., Providence, RI 02903, USA;3. Department of Neurology, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Boston, MA 02215, USA;1. Department of Neurosurgery, Iseikai Hospital, Osaka, Japan;2. Department of Neurosurgery, Suita Municipal Hospital, Suita, Japan;3. Osaka Neurological Institute, Toyonaka, Japan;4. Department of Neurosurgery, Osaka University Graduate School of Medicine, Suita, Japan;1. Department of Neuromodulation and Neurosurgery, Graduate School of Medicine, Osaka University, 2-2, Yamadaoka, Suita, Osaka 565-0871, Japan;2. Department of Neurosurgery, Graduate School of Medicine, Osaka University, Osaka, Japan

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.

Keywords:	GNE myopathy Novel mutation Chinese patient
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