De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin J J, Van Broeckhoven C, Evgrafov O, Timmerman V
Flanders Interuniversity Institute for Biotechnology, Born-Bunge Foundation, University of Antwerp, Division of Neurology, Belgium.
Ann Neurol. 2001 Feb;49(2):245-9. doi: 10.1002/1531-8249(20010201)49:2<245::aid-ana45>3.0.co;2-a.
A missense mutation in the neurofilament light chain gene (NEFL, NF-L) at chromosome 8p21 was recently reported in a single Charcot-Marie-Tooth type 2 family (CMT2). This new CMT2 variant is designated CMT2E. The NEFL gene mutation showed co-segregation with the disease phenotype and is thus most likely the disease-causing mutation. However, the possibility that it is a closely linked rare polymorphism can not be ruled out with certainty. We observed a novel NEFL missense mutation in a second CMT family, providing supporting evidence that CMT2E is caused by NEFL gene mutations.
最近在一个单一的2型夏科-马里-图思病（CMT2）家系中报道了位于8号染色体p21区域的神经丝轻链基因（NEFL，NF-L）的一个错义突变。这个新的CMT2变异型被命名为CMT2E。NEFL基因突变与疾病表型共分离，因此很可能是致病突变。然而，不能完全排除它是一个紧密连锁的罕见多态性的可能性。我们在第二个CMT家系中观察到一个新的NEFL错义突变，为CMT2E是由NEFL基因突变引起提供了支持证据。
