Article
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.
The Journal of biological chemistry - 19 Mar 2004
Noguchi Satoru, Keira Yoko, Murayama Kumiko, Ogawa Megumu, Fujita Masako, Kawahara Genri, Oya Yasushi, Imazawa Masaoki, Goto Yu-Ichi, Hayashi Yukiko K, Nonaka Ikuya, Nishino Ichizo
Abstract excerpt
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...
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