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Article

Identification of an Alu element‐mediated deletion in the promoter region of GNE in siblings with GNE myopathy

14 Jun 2017

Abstract excerpt

Abstract Background 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 (Glc NA c) 2‐epimerase/N‐acetylmannosamine (Man NA c) kinase. Typical characteristics of GNE myopathy include progressive myopathy, first involving anterior...

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PMID: 28717665
DOI: 10.1002/mgg3.300

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