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 2023
Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
CACNA1C Calcium channel, voltage-dependent, L type, alpha 1C subunit       | 12p13.33 | * Timothy syndrome - LQT8 (10.139, 10.175)* brugada syndrome 3 - (10.139, 10.175) |