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 |
PACSIN3 Protein kinase C and casein kinase substrate in neuron 3       | 11p11.2 | * Childhood-onset myopathy with hyperCKaemia - (3.61)* Congenital myopathy 27 - CMYO27 (3.61) |