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) |