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 |
STAC3 SH3 and cysteine rich domain 3       | 12q13.3 | * Myopathy, congenital, with malignant hyperthermia susceptibility - (3.41, 3.57)* Congenital myopathy 13 - CMYP13 (3.41, 3.57) |