H. Tomimitsu, K. Ishikawa, Jun Shimizu
Aug 13, 2002
Citations
5
Influential Citations
69
Citations
Quality indicators
Journal
Neurology
Abstract
Abstract—The authors present three novel missense mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene, the causative gene for hereditary inclusion body myopathy, in Japanese patients with distal myopathy with rimmed vacuoles. Seven out of nine patients had homozygous V572L mutation, one was a compound heterozygote with C303V and V572L mutations, and the remaining patient bore homozygous A631V mutation.