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 2024 (updated 17/01/2024)

Home
Disease group
Disease
Gene
Gene product
References
Search
Statistics

Gene symbol and protein	Gene Location	All allelic disease phenotypes - locus/disease symbols
POMT2 Protein-O-mannosyltransferase 2	14q24.3	* Walker-Warburg syndrome - WWS (1.47, 2.19, 2.33) * Muscle-eye-brain disease - MEB (1.47, 2.19, 2.33) * Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA2 (1.47, 2.19, 2.33) * Limb-girdle, muscular dystrophy, type 2n - LGMD2N (1.47, 2.19, 2.33)