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
CHRND Cholinergic receptor, nicotinic, delta	2q33-q34	* Myasthenic syndrome, slow-channel congenital - SCCMS (11.3, 11.7, 11.10) * Myasthenic syndrome, fast-channel congenital - FCCMS (11.3, 11.7, 11.10) * Myasthenic syndrome, congenital, 3B, Fast-channel - CMS3B (11.3, 11.7, 11.10)