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Ann Neurol. 2001 Feb;49(2):245-9.

Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.

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  • 1Flanders Interuniversity Institute for Biotechnology, Born-Bunge Foundation, University of Antwerp, Division of Neurology, Belgium.


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.

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