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
CHCHD10 Coiled-coil-helix-coiled-coil-helix domain containing 10(M)	22q11.2-q13.2	* late-onset spinal motor neuronopathy, Jokela type - SMAJ (12.44, 12.82, 16.63) * Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2 (12.44, 12.82, 16.63)