Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

@article{Zchner2004MutationsIT,
  title={Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A},
  author={Stephan Z{\"u}chner and Irina V Mersiyanova and Maria Muglia and Nisrine Bissar-Tadmouri and Julie Rochelle and Elena L. Dadali and Mario Zappia and Eva Nelis and Alessandra Patitucci and Jan Senderek and Yeşim G Parman and Oleg V. Evgrafov and Peter de Jonghe and Yuji Takahashi and Shoij Tsuji and Margaret A. Pericak-Vance and Aldo Quattrone and Esra Battologlu and Alexander V Polyakov and Vincent Timmerman and Jens Michael Schr{\"o}der and Jeffery M. Vance},
  journal={Nature Genetics},
  year={2004},
  volume={36},
  pages={449-451}
}
We report missense mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) in seven large pedigrees affected with Charcot-Marie-Tooth neuropathy type 2A (CMT2A). Although a mutation in kinesin family member 1B-β (KIF1B) was associated with CMT2A in a single Japanese family, we found no mutations in KIF1B in these seven families. Because these families include all published pedigrees with CMT2A and are ethnically diverse, we conclude that the primary gene mutated in CMT2A is MFN2. 
Highly Influential
This paper has highly influenced a number of papers. REVIEW HIGHLY INFLUENTIAL CITATIONS