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- Title
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
- Authors
Züchner, Stephan; Mersiyanova, Irina V; Muglia, Maria; Bissar-Tadmouri, Nisrine; Rochelle, Julie; Dadali, Elena L; Zappia, Mario; Nelis, Eva; Patitucci, Alessandra; Senderek, Jan; Parman, Yesim; Evgrafov, Oleg; Jonghe, Peter De; Takahashi, Yuji; Tsuji, Shoij; Pericak-Vance, Margaret A; Quattrone, Aldo; Battologlu, Esra; Polyakov, Alexander V; Timmerman, Vincent
- Abstract
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.
- Subjects
GENETIC mutation; GENETICS; GUANOSINE triphosphatase; NEUROPATHY; KINESIN; ALTERNATIVE medicine
- Publication
Nature Genetics, 2004, Vol 36, Issue 5, p449
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng1341