MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

@article{Verhoeven2006MFN2MD,
  title={MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.},
  author={K. Verhoeven and K. Claeys and S. Z{\"u}chner and J. Schr{\"o}der and J. Weis and C. Ceuterick and A. Jordanova and E. Nelis and E. De Vriendt and M. Van Hul and P. Seeman and R. Mazanec and G. M. Saifi and K. Szigeti and P. Mancias and I. Butler and A. Kochański and B. Ryniewicz and J. D. De Bleecker and P. V. D. van den Bergh and C. Verellen and R. Van Coster and N. Goemans and M. Auer-Grumbach and W. Robberecht and V. Mili{\'c} Ra{\vs}i{\'c} and Y. Nevo and I. Tournev and V. Guergueltcheva and F. Roelens and P. Vieregge and P. Vinci and M. T. Moreno and H. Christen and M. Shy and J. Lupski and J. Vance and P. de Jonghe and V. Timmerman},
  journal={Brain : a journal of neurology},
  year={2006},
  volume={129 Pt 8},
  pages={
          2093-102
        }
}
Mutations in mitofusin 2 (MFN2) have been reported in Charcot-Marie-Tooth type 2 (CMT2) families. To study the distribution of mutations in MFN2 we screened 323 families and isolated patients with distinct CMT phenotypes. In 29 probands, we identified 22 distinct MFN2 mutations, and 14 of these mutations have not been reported before. All mutations were located in the cytoplasmic domains of the MFN2 protein. Patients presented with a classical but rather severe CMT phenotype, since 28% of them… Expand
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