A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N …
F Saito, H Tomimitsu, K Arai, S Nakai, T Kanda… - Neuromuscular …, 2004 - Elsevier
Hereditary inclusion body myopathy and distal myopathy with rimmed vacuoles are both
caused by mutations of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine
kinase (GNE) gene. Here we report a Japanese patient with compound heterozygous
missense mutations in the epimerase domain of GNE gene, 89 G to C and 578 A to T.
Biochemical analysis demonstrated decreased reactivity of skeletal muscle glycoproteins
with the lectins recognizing sialic acid residues. The results suggest that hyposialylation of …
caused by mutations of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine
kinase (GNE) gene. Here we report a Japanese patient with compound heterozygous
missense mutations in the epimerase domain of GNE gene, 89 G to C and 578 A to T.
Biochemical analysis demonstrated decreased reactivity of skeletal muscle glycoproteins
with the lectins recognizing sialic acid residues. The results suggest that hyposialylation of …