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
POMT2 Protein-O-mannosyltransferase 2	14q24.3	* Walker-Warburg syndrome - WWS (1.44, 2.20, 2.34) * Muscle-eye-brain disease - MEB (1.44, 2.20, 2.34) * Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA2 (1.44, 2.20, 2.34) * Limb-girdle, muscular dystrophy, type 2n - LGMD2N (1.44, 2.20, 2.34)