GNE myopathy is a rare disease, which is also known by other names like Nonaka myopathy, distal myopathy with rimmed vacuoles-DMRV, hereditary inclusion body myopathy-HIBM, Inclusion body myopathy 2-IBM2 and quadriceps sparing myopathy. It has a prevalence of 1-21/1,000,000 population. [1–5] It is an autosomal recessive disease caused by bi-allelic inheritance of variable mutations in the GNE gene on chromosome 9, encoding a bifunctional enzyme- uridine diphosphate-N-acetylglucosamine 2-epimerase /N-acetylmannosamine kinase required in sialic acid- 5-N-acetylneuraminic acid (Neu5Ac) synthesis, which in turn plays a role in glycoprotein and glycolipid stability.

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