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 |
OPA1 optic atrophy 1(M)      | 3q28-q29 | * Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness - (16.58, 16.60)* Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) - MTDPS14 (16.58, 16.60) |