Article
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
Annals of neurology - 1 Feb 2001
De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin J J, Van Broeckhoven C, Evgrafov O, Timmerman V
Abstract excerpt
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...
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