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 2026 (updated 18/05/2026)
Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
COX18 Cytochrome c Oxidase Assembly Factor COX18(M)       | 4q13.3 | * Charcot-Marie-Tooth - (12.48) * Sensory-motor neuropathy with oculofacial apraxia - (12.48) * Charcot-Marie-Tooth disease, axonal - (12.48) |