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 2022

Gene symbol and protein	Gene Location	All allelic disease phenotypes - locus/disease symbols
PYROXD1 Pyridine nucleotidedisulphide oxidoreductase domain 1	12p12.1	* Early-onset myofibrillar myopathy with PYRODX1 defect - (1.64, 3.62, 5.9) * LGMD related to PYROXD1 - (1.64, 3.62, 5.9) * Congenital Myopathy related to PYROXD1 - (1.64, 3.62, 5.9)