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Neurology. 2004 May 11;62(9):1607-10.

Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.

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  • 1Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, University of Tokyo, Japan.


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.

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