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)

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Gene symbol and protein	Gene Location	All allelic disease phenotypes - locus/disease symbols
LARGE1 LARGE xylosyl- and glucuronyltransferase 1	22q12.3	* Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB6 (2.23, 2.37) * Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA6 (2.23, 2.37)