GNE myopathy in a Chinese male with a novel homozygous mutation
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DOI: 10.1016/j.jocn.2016.12.041
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… read more here.
Keywords: novel homozygous; mutation gne; gne myopathy; gne gene ... See more keywords