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 |
GBE1 Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)       | 3p12 | * Glycogen branching enzyme deficiency - GSD IV (9.3) |