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

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 li...

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Bibliographic Details
Published in:Annals of neurology 2001-02, Vol.49 (2), p.245-249
Main Authors: De Jonghe, Peter, Mersivanova, Irina, Nelis, Eva, Del Favero, Jurgen, Martin, Jean-Jacques, Van Broeckhoven, Christine, Evgrafov, Oleg, Timmerman, Vincent
Format: Article
Language:English
Subjects:
Adolescent
Charcot-Marie-Tooth Disease - genetics
Chromatography, High Pressure Liquid
Female
Humans
Mutation - genetics
Neurofilament Proteins - genetics
Pedigree
Time Factors
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Summary: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 Ann Neurol 2001;49:245–249
ISSN:0364-5134
1531-8249
DOI:10.1002/1531-8249(20010201)49:2<245::AID-ANA45>3.0.CO;2-A