GeneTable of Neuromuscular Disorders

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)

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Gene symbol and protein	Gene Location	All allelic disease phenotypes - locus/disease symbols
GMPPB GDP-mannose pyrophosphorylase B	3p21.31	* Congenital Myasthenic syndrome related to GMPPB - (1.52, 2.32, 2.39, 11.37) * Muscle-eye-brain disease - MDDGA14 (1.52, 2.32, 2.39, 11.37) * Limb-Girdle, Muscular dystrophy, type 2T - MDDGC14 (1.52, 2.32, 2.39, 11.37)