张如旭，郭鹏，任志军，赵国华，刘三妹，刘婷，资晓宏，胡正茂，夏昆，唐北沙 . LITAF、RAB7、LMNA和MTMR2基因在中国人腓骨肌萎缩症患者的突变分析[J]. 遗传, 2010 , 32(8) : 817 -823 . DOI: 10.3724/SP.J.1005.2010.00817

[1] Warner LE, Garcia CA, Lupski JR. Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms. Annu Rev Med, 1999, 50: 263–275. [2] Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol, 2009, 8: 654–67. [3] 张付峰, 唐北沙, 沈岩, 赵国华, 夏昆, 赵一强, 陈彪, 张成, 潘乾, 蔡芳, 刘小民, 罗巍, 张如旭, 郭鹏. 实时荧光定量PCR在周围髓鞘蛋白22基因重复或缺失检测中的应用. 中华医学遗传学杂志, 2005, 22(5): 537–540. [4] 萧剑锋, 唐北沙, 夏家辉. 夏科-马里-图思病Cx32、MPZ和PMP22基因点突变的特点. 中华神经科杂志, 1999, 32(3): 142–145. [5] 张如旭, 唐北沙, 资晓宏, 罗巍, 夏昆, 潘乾, 龙志高, 胡正茂, 李小波. 腓骨肌萎缩症GDAP1基因突变分析. 中华医学遗传学杂志, 2004, 21(3): 207–210. [6] Zhang RX, Luo W, Zi XH, Xia K, Cai F, Xiao JF, Zhao GH, Zhang FF, Shen L, Jiang H, Tang BS. Mutation screening of Cx32 in Han Chinese patients with Char-cot-Marie-Tooth disease. Journal of Peking University (Health Sciences), 2005, 37(1): 68–71. [7] Tang B, Liu X, Zhao G, Luo W, Xia K, Pan Q, Cai F, Hu Z, Zhang C, Chen B, Zhang F, Shen L, Zhang R, Jiang H. Mutation analysis of the small heat-shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease. Arch Neurol, 2005, 62(8): 1201–1207. [8] Tang BS, Zhao GH, Luo W, Xia K, Cai F, Pan Q, Zhang RX, Zhang FF, Liu XM, Chen B, Zhang C, Shen L, Jiang H, Long ZG, Dai HP. Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. Hum Genet, 2005, 116(3): 222–224. [9] 张如旭, 付敏, 资晓宏, 李小波, 张付峰, 夏昆, 潘乾, 胡正茂, 唐北沙. 中国人腓骨肌萎缩症线粒体融合蛋白2基因突变分析. 中华医学杂志, 2009, 89(12): 3324–3327. [10] Harding AE, Thomas PK. The clinical features of heredi-tary motor and sensory neuropathy types I and II. Brain, 1980, 103: 259–280. [11] Street VA, Goldy JD, Golden AS, Tempel BL, Bird TD, Chance PF. Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demy-elinating neuropathies. Am J Hum Genet, 2002, 70(1): 244–250. [12] Street VA, Bennett CL, Goldy JD, Shirk AJ, Kleopa KA, Tempel BL, Lipe HP, Scherer SS, Bird TD, Chance PF. Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology, 2003, 60(1): 22–26. [13] Kwon JM, Elliott JL, Yee WC, vanovich J, Scavarda NJ, Moolsintong PJ, Goodfellow PJ. Assignment of a second Charcot-Marie- Tooth type II locus to chromosome 3q. Am J Hum Genet, 1995, 57(4): 853–858. [14] Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, FitzPatrick D, Schmedding E, De Vriendt E, Jacobs A, Van Gerwen V, Wagner K, Hartung HP, Timmerman V. Mutations in the small GTP-ase late endosomal protein RAB7 cause Char-cot-Marie-Tooth type 2B neuropathy. Am J Hum Genet, 2003, 72(3): 722–727. [15] Bouhouche A, Benomar A, Birouk N, Mularoni A, Meg-gouh F, Tassin J, Grid D, Vandenberghe A, Yahyaoui M, Chkili T, Brice A, LeGuern E. A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3. Am J Hum Genet, 1999, 65(3): 722–727. [16] De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N. Homozy-gous defects in LMNA, encoding lamin A/C nu-clear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet, 2002, 70(3): 726–736. [17] Bolino A, Brancolini V, Bono F, Bruni A, Gambardella A, Romeo G, Quattrone A, Devoto M. Localization of a gene responsible for autosomal recessive demyelinating neu-ropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum Mol Genet, 1996, 5(7): 1051–1054. [18] Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quat-