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 |
DOK7 Docking protein 7       | 4p16.2 | * Familial limb-girdle myasthenia related to DOK7 - CMS1B (11.18, 16.28)* Myasthenic syndrome, congenital, 10 - CMS10 (11.18, 16.28)* Fetal akinesia deformation sequence 3 - FADS3 (11.18, 16.28) |