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

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

De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C, Evgrafov O, Timmerman V.

Source

Flanders Interuniversity Institute for Biotechnology, Born-Bunge Foundation, University of Antwerp, Division of Neurology, Belgium. dejonghe@uia.ua.ac.be

Abstract

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.

PMID:: 11220745; [PubMed - indexed for MEDLINE]

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Research Support, Non-U.S. Gov't

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Neurofilament Proteins

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Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
Ann Neurol. 2001 Feb ;49(2):245-9.

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