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NEUROLOGY 2004;62:1607-1610
© 2004 American Academy of Neurology
Brief Communications

Distal myopathy with rimmed vacuoles (DMRV)

New GNE mutations and splice variant

H. Tomimitsu, MD, J. Shimizu, MD, K. Ishikawa, MD, N. Ohkoshi, MD, I. Kanazawa, MD and H. Mizusawa, MD

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. H. Mizusawa, Department of Neurology and Neurologic 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

Study of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE) revealed that almost all cases of distal myopathy with rimmed vacuoles were caused by GNE mutations. Seven new mutations were identified, including M712T, which is the most common mutation in Jewish hereditary inclusion body myopathy. In addition, a splice-variant characteristic of the skeletal muscle was found, whereas the difference of the expression level between GNE-mutated and -nonmutated patients was not apparent.

Received January 29, 2003. Accepted in final form December 15, 2003.

The current address of Dr. Kanazawa is National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.




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