GNE Myopathy: Can homozygous asymptomatic subjects give a clue for the identification of protective factors?

GNE myopathy is caused by bi allelic recessive mutations in the GNE gene, which encodes a bifunctional enzyme in the metabolic pathway of sialic acid synthesis. The product of the GNE gene is UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (UDP-GlcNAc 2-epimerase/ManNAc kinase, GNE), a 753 amino acid highly conserved protein in mammals. GNE myopathy is a rare worldwide neuromuscular disease, usually manifesting with slowly progressive distal muscle weakness in early adulthood, and a typical muscle pathology [1,2].
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research