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
SACS Sacsin	13q12	* Charcot-Marie-Tooth disease, axonal; related to SACS - (13.102, 14.100, 15.93) * Autosomal recessive spastic ataxia of Charlevoix-Saguenay - ARSACS (13.102, 14.100, 15.93) * Spastic ataxia Charlevoix-Saguenay type - SPAX6 (13.102, 14.100, 15.93) * Spastic ataxia, Charlevoix-Saguenay type - SACS (13.102, 14.100, 15.93)