Title : A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Pub. Date : 2007 Jan 15

PMID : 17164266






1 Functional Relationships(s)
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1 Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion myopathy (h-IBM) is an early adult-onset distal myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene which encodes for a bifunctional enzyme involved in sialic acid biosynthesis. N-Acetylneuraminic Acid glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus