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)

Home
Disease group
Disease
Gene
Gene product
References
Search
Statistics

Gene symbol and protein	Gene Location	All allelic disease phenotypes - locus/disease symbols
RAPSN Rapsyn	11p11.2-p11.1	* Myasthenic syndrome, congenital - CMS1D (11.19, 16.29) * Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency - CMS11 (11.19, 16.29) * Fetal akinesia deformation sequence 2 - FADS2 (11.19, 16.29)