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Distal myopathy with rimmed vacuoles: Novel mutations in the GNE gene

From the Department of Neurology and Neurological Science (Drs. Tomimitsu, Ishikawa, and Mizusawa), Graduate School, Tokyo Medical and Dental University; Department of Neurology (Drs. Shimizu and Kanazawa), Graduate School of Medicine, University of Tokyo; and Department of Neurology (Dr. Ohkoshi), Institute of Clinical Medicine, University of Tsukuba, Ibaraki, Japan.

Address correspondence and reprint requests to Dr. Hidehiro Mizusawa, Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan; e-mail: h-mizusawa.nuro{at}tmd.ac.jp

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.

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