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
CHRNE Cholinergic receptor, nicotinic, epsilon	17p13-p12	* Myasthenic syndrome, slow-channel congenital - SCCMS (11.4, 11.8, 11.11) * Myasthenic syndrome, fast-channel congenital - FCCMS (11.4, 11.8, 11.11) * Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency - CMS4C (11.4, 11.8, 11.11)