Identification of an Alu element‐mediated deletion in the promoter region of GNE in siblings with GNE myopathy
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DOI: 10.1002/mgg3.300
Abstract: GNE myopathy is a rare genetic disease characterized by progressive muscle atrophy and weakness. It is caused by biallelic mutations in the GNE gene that encodes for the bifunctional enzyme, uridine diphosphate (UDP)‐N‐acetylglucosamine (GlcNAc) 2‐epimerase/N‐acetylmannosamine… read more here.
Keywords: gne myopathy; identification alu; element mediated; gne ... See more keywords