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 |
JPH2 Junctophilin-2       | 20q13.12 | * Hypertrophic cardiomyopathy related to junctophilin - (10.18, 10.86)* Cardiomyopathy, familial hypertrophic, 17 - CMH17 (10.18, 10.86)* Dilated cardiomyopathy, 2E - CMD2E (10.18, 10.86) |