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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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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 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.[1]

References

  1. 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, J.J., Van Broeckhoven, C., Evgrafov, O., Timmerman, V. Ann. Neurol. (2001) [Pubmed]
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