Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

作者: Kathrin Engelfried , Matthias Vorgerd , Michaela Hagedorn , Gerhard Haas , Jürgen Gilles

DOI: 10.1186/1471-2350-7-53

关键词:

摘要: Background Charcot-Marie-Tooth neuropathies are a group of genetically heterogeneous diseases the peripheral nervous system. Mutations in MFN2 gene have been reported as primary cause Charcot-Marie-Tooth disease type 2A.

参考文章(20)
V. H. Lawson, B. V. Graham, K. M. Flanigan, Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene Neurology. ,vol. 65, pp. 197- 204 ,(2005) , 10.1212/01.WNL.0000168898.76071.70
D. Zhu, M. L. Kennerson, G. Walizada, S. Zuchner, J. M. Vance, G. A. Nicholson, Charcot–Marie–Tooth with pyramidal signs is genetically heterogeneous: Families with and without MFN2 mutations Neurology. ,vol. 65, pp. 496- 497 ,(2005) , 10.1212/01.WNL.0000171345.62270.29
Takumi Koshiba, Scott A Detmer, Jens T Kaiser, Hsiuchen Chen, J Michael McCaffery, David C Chan, Structural basis of mitochondrial tethering by mitofusin complexes Science. ,vol. 305, pp. 858- 862 ,(2004) , 10.1126/SCIENCE.1099793
Axel Niemann, Marcel Ruegg, Veronica La Padula, Angelo Schenone, Ueli Suter, Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease Journal of Cell Biology. ,vol. 170, pp. 1067- 1078 ,(2005) , 10.1083/JCB.200507087
Yuka Eura, Naotada Ishihara, Sadaki Yokota, Katsuyoshi Mihara, Two Mitofusin Proteins, Mammalian Homologues of FZO, with Distinct Functions Are Both Required for Mitochondrial Fusion Journal of Biochemistry. ,vol. 134, pp. 333- 344 ,(2003) , 10.1093/JB/MVG150
Kamel Ben Othmane, Lefkos T. Middleton, Lorraine J. Loprest, Kenneth M. Wilkinson, Felicia Lennon, Marvin P. Rozear, Jeffrey U. Stajich, Perry C. Gaskell, Allen D. Roses, Margaret A. Pericak-Vance, Jeffery M. Vance, Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity Genomics. ,vol. 17, pp. 370- 375 ,(1993) , 10.1006/GENO.1993.1334
E. Nelis, S. Erdem, P. Y.K. Van den Bergh, M.-C. Belpaire-Dethiou, C. Ceuterick, V. Van Gerwen, A. Cuesta, L. Pedrola, F. Palau, A. A.W.M. Gabreels-Festen, C. Verellen, E. Tan, M. Demirci, C. Van Broeckhoven, P. De Jonghe, H. Topaloglu, V. Timmerman, Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology. ,vol. 59, pp. 1865- 1872 ,(2002) , 10.1212/01.WNL.0000036272.36047.54
Kazuki Kijima, Chikahiko Numakura, Hiroko Izumino, Kazuo Umetsu, Atsuo Nezu, Toshihide Shiiki, Masafumi Ogawa, Yoshito Ishizaki, Takeshi Kitamura, Yasunobu Shozawa, Kiyoshi Hayasaka, Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A Human Genetics. ,vol. 116, pp. 23- 27 ,(2005) , 10.1007/S00439-004-1199-2
A. E. HARDING, P. K. THOMAS, THE CLINICAL FEATURES OF HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPES I AND II Brain. ,vol. 103, pp. 259- 280 ,(1980) , 10.1093/BRAIN/103.2.259
Hsiuchen Chen, Scott A. Detmer, Andrew J. Ewald, Erik E. Griffin, Scott E. Fraser, David C. Chan, Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development Journal of Cell Biology. ,vol. 160, pp. 189- 200 ,(2003) , 10.1083/JCB.200211046