GeneTable of Neuromuscular Disorders

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 2024 (updated 17/01/2024)

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Gene symbol and protein	Gene Location	All allelic disease phenotypes - locus/disease symbols
NEFL Neurofilament, light polypeptide 68kDa	8p21	* Charcot-Marie-Tooth disease, type 2E - CMT2E (14.7, 14.21, 14.59) * Charcot-Marie-Tooth disease, type 1F - CMT1F (14.7, 14.21, 14.59) * Charcot-Marie-Tooth disease, dominant intermediate G - CMTD1G (14.7, 14.21, 14.59)