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 |
ADCK3 Coenzyme Q8A       | 1q42.13 | * spinocerebellar ataxia, autosomal recessive 9 - SCAR9 (13.69, 16.75)* Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency - SCAR9 (13.69, 16.75) |