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
SPG11 SPG11 vesicle trafficking associated, Spatacsin	15q21.1	* Amyotrophic lateral sclerosis 5 - ALS5 (12.56, 14.96, 15.30) * Spastic paraplegia 11 - SPG11 (12.56, 14.96, 15.30) * Charcot-Marie-Tooth neuropathy Type 2X - CMT2X (12.56, 14.96, 15.30)