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 |
PNKP polynucleotide kinase 3’-phosphatase       | 19q13.33 | * Early-onset axonal Charcot-Marie-Tooth with ataxia - (14.89, 14.97)* Charcot-Marie-Tooth disease, type 2B2 - CMT2B2 (14.89, 14.97) |