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 2025 (updated 12/03/2025)
Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
SLC25A42 Solute carrier family 25 member 42(M)       | 19p13.11 | * Mitochondrial myopathy - (17.38)* Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - MECREN (17.38) |