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
NOTCH2NLC Notch2 N-terminal-like protein	1q21.2	* Oculopharyngodistal myopathy - (5.24, 14.137, 14.84) * Charcot-Marie-Tooth disease, axonal, related to NOTCH2NLC - CMT2 (5.24, 14.137, 14.84) * Neuronal intranuclear inclusion diseases - NIID (5.24, 14.137, 14.84)