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Neurology 2003;61:384-386
© 2003 American Academy of Neurology
Brief Communications

GNE mutations causing distal myopathy with rimmed vacuoles with inflammation

I. Yabe, MD PhD, T. Higashi, MD, S. Kikuchi, MD PhD, H. Sasaki, MD PhD, T. Fukazawa, MD PhD, K. Yoshida, MD PhD and K. Tashiro, MD PhD

From the Department of Neurology (Drs. Yabe, Higashi, Kikuchi, Sasaki, and Tashiro), Hokkaido University Graduate School of Medicine, and Hokuyukai Neurology Hospital (Dr. Fukazawa), Sapporo; and Department of Neurology (Dr. Yoshida), Asahikawa Red Cross Hospital, Asahikawa, Japan.

Address correspondence and reprint requests to Ichiro Yabe, MD, PhD, Department of Neurology, Hokkaido University Graduate School of Medicine, N15 W7, Kita-ku, Sapporo 060-8638, Japan; e-mail: yabe{at}med.hokudai.ac.jp

The authors describe a family in which two individuals have clinical distal myopathy with rimmed vacuoles (DMRV). While the clinical and most of the pathologic features in these patients were compatible with a diagnosis of DMRV, the presence of inflammatory changes in the connective tissue between muscle fibers was not. Gene analysis revealed a compound heterozygous mutation in these individuals, characterized by V572L and I472T.




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