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
PMP22 Peripheral myelin protein 22	17p12-p11.2	* Charcot-Marie-Tooth disease, type 1A - CMT1A (14.1, 14.5, 14.6, 14.50) * Charcot-Marie-Tooth disease, type 1E - CMT1E (14.1, 14.5, 14.6, 14.50) * Dejerine-Sottas Syndrome - DSSB (14.1, 14.5, 14.6, 14.50) * Neuropathy, recurrent, with pressure palsies - HNPP (14.1, 14.5, 14.6, 14.50)