We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
- Authors
De Jonghe, Peter; Mersivanova, Irina; Nelis, Eva; Del Favero, Jurgen; Martin, Jean-Jacques; Van Broeckhoven, Christine; Evgrafov, Oleg; Timmerman, Vincent; De Jonghe, P; Mersivanova, I; Nelis, E; Del Favero, J; Martin, J J; Van Broeckhoven, C; Evgrafov, O; Timmerman, V
- 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.
- Publication
Annals of Neurology, 2001, Vol 49, Issue 2, p245
- ISSN
0364-5134
- Publication type
journal article
- DOI
10.1002/1531-8249(20010201)49:2<245::AID-ANA45>3.0.CO;2-A