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 |
GFPT1 Glutamine-fructose-6-phosphate transaminase 1       | 2p12-p15 | * Familial limb girdle myasthenia with tubular aggregates related to GFPT1 - CMSTA1 (11.20)* Myasthenia, congenital, 12, with tubular aggregates - CMS12 (11.20) |