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
NDUFAF1 NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)	15q15.1	* patient with HCM and isolated respiratory complex I deficiency - (10.32) * Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 - (10.32) * Mitochondrial complex 1 deficiency, nuclear type 11 - MC1DN11 (10.32)