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2012
Y. W. Wang, Han, W. T., Jiang, M., Lu, C. X., Li, X. F., Zhang, X., and Li, J. X., A novel mutation of the MFN2 gene in a Chinese family with Charcot-Marie-Tooth disease, vol. 11. pp. 1454-1459, 2012.
Banchs I, Casasnovas C, Montero J, Martinez-Matos JA, et al. (2008). Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings. Neuromuscul. Disord. 18: 974-978.http://dx.doi.org/10.1016/j.nmd.2008.09.006PMid:18996695Barisic N, Claeys KG, Sirotkovic-Skerlev M, Lofgren A, et al. (2008). Charcot-Marie-Tooth disease: a clinico-genetic confrontation. Ann. Hum. Genet. 72: 416-441.http://dx.doi.org/10.1111/j.1469-1809.2007.00412.xPMid:18215208Cartoni R and Martinou JC (2009). Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. Exp. Neurol. 218: 268-273.http://dx.doi.org/10.1016/j.expneurol.2009.05.003PMid:19427854Chung KW, Kim SB, Park KD, Choi KG, et al. (2006). Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain 129: 2103-2118.http://dx.doi.org/10.1093/brain/awl174PMid:16835246Engelfried K, Vorgerd M, Hagedorn M, Haas G, et al. (2006). Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). BMC Med. Genet. 7: 53.http://dx.doi.org/10.1186/1471-2350-7-53PMid:16762064 PMCid:1524942Honda S, Aihara T, Hontani M, Okubo K, et al. (2005). Mutational analysis of action of mitochondrial fusion factor mitofusin-2. J. Cell Sci. 118: 3153-3161.http://dx.doi.org/10.1242/jcs.02449PMid:15985463Kijima K, Numakura C, Izumino H, Umetsu K, et al. (2005). Mitochondrial GTPase mitofusin 2 mutation in Charcot- Marie-Tooth neuropathy type 2A. Hum. Genet. 116: 23-27.http://dx.doi.org/10.1007/s00439-004-1199-2PMid:15549395Koshiba T, Detmer SA, Kaiser JT, Chen H, et al. (2004). Structural basis of mitochondrial tethering by mitofusin complexes. Science 305: 858-862.http://dx.doi.org/10.1126/science.1099793PMid:15297672Nicolaou P, Zamba-Papanicolaou E, Koutsou P, Kleopa KA, et al. (2010). Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics. Neuroepidemiology 35: 171-177.http://dx.doi.org/10.1159/000314351PMid:20571287Rojo M, Legros F, Chateau D and Lombes A (2002). Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo. J. Cell Sci. 115: 1663-1674.PMid:11950885Santel A and Fuller MT (2001). Control of mitochondrial morphology by a human mitofusin. J. Cell Sci. 114: 867-874.PMid:11181170Verhoeven K, Claeys KG, Zuchner S, Schroder JM, et al. (2006). MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain 129: 2093-2102.http://dx.doi.org/10.1093/brain/awl126PMid:16714318Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, et al. (2004). Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat. Genet. 36: 449-451.http://dx.doi.org/10.1038/ng1341PMid:15064763