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 |
SCO2 Cytochrome c oxidase assembly protein(M)       | 22q13.33 | * Charcot-Marie-Tooth disease, axonal, related to SCO2 - (10.38, 14.99)* Mitochondrial complex IV deficiency, nuclear type 2 - MC4DN2 (CEMCOX1) (10.38, 14.99) |