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 - (1.59, 3.60, 5.9)
* LGMD related to PYROXD1 - (1.59, 3.60, 5.9)
* Congenital Myopathy related to PYROXD1 - (1.59, 3.60, 5.9)