Article
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Brain : a journal of neurology - 1 Aug 2006
Verhoeven Kristien, Claeys Kristl G, Züchner Stephan, Schröder J Michael, Weis Joachim, Ceuterick Chantal, Jordanova Albena, Nelis Eva, De Vriendt Els, Van Hul Matthias, Seeman Pavel, Mazanec Radim, Saifi Gulam Mustafa, Szigeti Kinga, Mancias Pedro, Butler Ian J, Kochanski Andrzej, Ryniewicz Barbara, De Bleecker Jan, Van den Bergh Peter, Verellen Christine, Van Coster Rudy, Goemans Nathalie, Auer-Grumbach Michaela, Robberecht Wim, Milic Rasic Vedrana, Nevo Yoram, Tournev Ivajlo, Guergueltcheva Velina, Roelens Filip, Vieregge Peter, Vinci Paolo, Moreno Maria Teresa, Christen H-J, Shy Michael E, Lupski James R, Vance Jeffery M, De Jonghe Peter, Timmerman Vincent
Abstract excerpt
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....
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