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)
Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
COLQ Acetylcholinesterase collagen-like tail subunit       | 3p25 | * Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency - EAD (11.12)* Myasthenic syndrome, congenital, 5 - CMS5 (11.12) |