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 |
TEFM Transcription elongation factor, mitochondrial(M)      | 17q11.2 | * Congenital myasthenic syndrome - (11.47, 17.54)* Combined oxidative phosphorylation deficiency 58 - COXPD58 (11.47, 17.54) |