[HTML][HTML] Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles

S Noguchi, Y Keira, K Murayama, M Ogawa… - Journal of Biological …, 2004 - ASBMB
Distal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with
preferential involvement of the tibialis anterior that spares the quadriceps muscles in young
adulthood. In a Japanese patient with distal myopathy with rimmed vacuoles, we identified
pathogenic mutations in the gene encoding the bifunctional enzyme UDP-GlcNAc 2-
epimerase/ManNAc kinase, which catalyzes the initial two steps in the biosynthesis of sialic
acid. In this study, we demonstrated the relationship between the genetic mutations and …