GNE myopathy in a Chinese male with a novel homozygous mutation.

GNE myopathy in a Chinese male with a novel homozygous mutation.

J Clin Neurosci. 2017 Mar 08;:

Authors: Rui B, Chuanqiang P, Huifang W, Huaxu L, Qiang S, Miaomiao W, Haiwen S

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.

PMID: 28284578 [PubMed - as supplied by publisher]

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