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 |
CPT2 Carnitine palmitoyltransferase II(M)       | 1p32 | * Myopathy due to CPT II deficiency - CPT2 (9.22)* CPT deficiency, hepatic, type II - CPT2 (9.22)* Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II - CPTase (9.22) |