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 |
CNTNAP1 Contactin-Associated Protein 1       | 17q21.2 | * Charcot-Marie Tooth disease related to CNTNAP1 - (12.96, 14.36)* Lethal congenital contracture syndrome 7 - LCCS7 (12.96, 14.36) |