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
HACD1 Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase	10p12.33	* Arrhythmogenic right ventricular dysplasia, familial, 6 - ARVD6 (3.39, 10.120) * Arrhythmogenic right ventricular cardiomyopathy 6 - ARVC6 (3.39, 10.120) * Congenital Myopathy 11 - CMYP11 (3.39, 10.120)