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 2025 (updated 12/03/2025)

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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 - (1.58, 3.61, 5.9) * LGMD related to PYROXD1 - (1.58, 3.61, 5.9) * Congenital Myopathy related to PYROXD1 - (1.58, 3.61, 5.9)