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 |
ATP1A1 ATPase, Na+/K+ transporting, alpha-1 polypeptide       | 1p13.1 | * Charcot-Marie-Tooth disease, type 1, related to ATP1A1 - (14.14, 14.76)* Charcot-Marie-Tooth disease, axonal, type 2DD - CMT2DD (14.14, 14.76) |