This table has been prepared by Dr Gisèle Bonne * - PhD and by Pr. François Rivier ** - MD, PhD
This website is developed and maintained by Dalil Hamroun** - PhD
* Sorbonne Université-Inserm, Centre of Research in Myology , Paris, France.
** Chu de Montpellier, Montpellier. France.
GT_NMD 2025 (updated 12/03/2025)
Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
NEFH Neurofilament, heavy polypeptide       | 22q12.2 | * Susceptibility to amyotrophic lateral sclerosis related to NEFH - ALSDC (12.82, 14.68)* Charcot-Marie-Tooth disease, axonal, type 2CC - CMT2CC (12.82, 14.68) |