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 |
SIGMAR1 Sigma non-opioid intracellular receptor 1      | 9p13.3 | * spinal muscular atrophy, distal, autosomal recessive, 2 - DSMA2 (12.14, 12.67)* Amyotrophic lateral sclerosis 16, juvenile - ALS16 (12.14, 12.67) |