GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.

@article{Yabe2003GNEMC,
  title={GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.},
  author={Ichiro Yabe and Tatsuya Higashi and Seiji Kikuchi and Hidenao Sasaki and Toshiyuki Fukazawa and Kazuto Yoshida and Kunio Tashiro},
  journal={Neurology},
  year={2003},
  volume={61 3},
  pages={384-6}
}
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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