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
EGR2 Early growth response 2 protein	10q21.1	* Dejerine-Sottas syndrome - DSS (14.4, 14.34, 14.52) * Charcot-Marie-Tooth neuropathy Type 4E - CMT4E (14.4, 14.34, 14.52) * Neuropathy, congenital hypomyelinating, 1 - CHN1 (14.4, 14.34, 14.52) * Charcot-Marie-Tooth disease, type 1D - CMT1D (14.4, 14.34, 14.52)