Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

Alejandro HorgaMatilde LauràZane JaunmuktaneNivedita U JerathMichael A GonzalezJames M PolkeRoy PohJulian C BlakeYo-Tsen LiuSarah WiethoffConceição BettencourtMichael Pt LunnHadi ManjiMichael G HannaHenry HouldenSebastian BrandnerStephan ZüchnerMichael ShyAlexander Martin Rossor

Published in: Journal of neurology, neurosurgery, and psychiatry (2017)

NEFL-related CMT is clinically and genetically heterogeneous. Based on this study, however, we propose mutational hotspots and relevant clinical-genetic associations that may be helpful in the evaluation of NEFL sequence variants and the differential diagnosis with other forms of CMT.

Keyphrases

copy number
genome wide
gene expression