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
GARS1 Glycyl-tRNA synthetase	7p15	* Neuropathy, distal hereditary motor type V - HMN V (12.28, 14.58) * Spinal muscular atrophy, distal, type V - DSMAV (12.28, 14.58) * Charcot-Marie-Tooth disease, axonal, type 2D - CMT2D (12.28, 14.58)