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 |
STIM1 Stromal interaction molecule 1       | 11p15.4 | * Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections - (5.40, 5.48)* Tubular aggregate myopathy 1 - TAM1 (5.40, 5.48) |