GNE myopathy is a rare autosomal recessive myopathy characterized by distal muscle weakness and atrophy. The mutations in the gene GNE encode a defective UDP-N-acetyl-glucosamine 2-epimerase/N-acetyl-mannosamine kinase, a key bifunctional enzyme in sialic acid biosynthesis. This condition is thought to be ubiquitous, even if actually most of the descriptions proceed from several large clusters with founder mutations. More reports are necessary to describe the genetic spectrum and try to establish the genotype-phenotype correlations.

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