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
ELP1 Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	9q31.3	* Neuropathy, hereditary sensory and autonomic, type III - HSAN3 (14.112, 16.3) * Familial dysautonomia (Riley-Day syndrome) - (14.112, 16.3)