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 |
ASCC1 Activating signal cointegrator 1 complex subunit 1       | 10q22.1 | * Arthrogryposis related to ASCC1 - (12.12, 16.24)* Spinal muscular atrophy with congenital bone fractures 2 - SMABF2 (12.12, 16.24) |