Ismailov S M, Fedotov V P, Dadali E L, Polyakov A V, Van Broeckhoven C, Ivanov V I, De Jonghe P, Timmerman V, Evgrafov O V
Russian State Medical University, Moscow, Russia.
Eur J Hum Genet. 2001 Aug;9(8):646-50. doi: 10.1038/sj.ejhg.5200686.
Charcot-Marie-Tooth disease (CMT) constitutes a genetically heterogeneous group of inherited motor and sensory peripheral neuropathies. The axonal type of CMT is designated CMT type 2 (CMT2). Four loci for autosomal dominant CMT2 have been reported so far. Only in CMT2E, linked to chromosome 8p21, disease-causing mutations in the gene for neurofilament light chain (NEFL) were identified. In this study we report a multigenerational Russian family with autosomal dominant CMT2 and assign the locus to chromosome 7q11-q21. The CMT2 neuropathy in this family represents a novel genetic entity designated CMT2F.
夏科-马里-图斯病（CMT）是一组具有遗传异质性的遗传性运动和感觉性周围神经病。CMT的轴索性类型被命名为CMT2型（CMT2）。迄今为止，已报道了4个常染色体显性CMT2的基因座。仅在与8号染色体p21区域连锁的CMT2E中，发现了神经丝轻链（NEFL）基因的致病突变。在本研究中，我们报告了一个患有常染色体显性CMT2的俄罗斯多代家族，并将该基因座定位于7号染色体q11-q21区域。该家族中的CMT2型神经病代表了一种新的遗传实体，命名为CMT2F。
