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
MFN2 Mitofusin 2(M)	1p36.22	* Hereditary motor and sensory neuropathy, type VIA with optic atrophy - HMSN6A (14.55, 14.79, 14.87) * Hereditary motor and sensory neuropathy 2A - CMT2A2A (14.55, 14.79, 14.87) * Charcot-Marie-Tooth disease, axonal, type 2A2B - CMT2A2B (14.55, 14.79, 14.87)