Further evidence that neurofilament light chain gene mutations can cause Charcot‐Marie‐Tooth disease type 2E
P De Jonghe, I Mersivanova, E Nelis… - Annals of Neurology …, 2001 - Wiley Online Library
P De Jonghe, I Mersivanova, E Nelis, J Del Favero, JJ Martin, C Van Broeckhoven…
Annals of Neurology: Official Journal of the American Neurological …, 2001•Wiley Online LibraryA 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 …
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 …
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 Ann Neurol 2001;49:245–249
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