Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests.

Stephanie J ValbergMarisa L HenryKeely L HerrickDeborah Velez-IrizarryCarrie J Finno Jessica L Petersen

Published in: Equine veterinary journal (2022)

The P2, P3 and P4 variants in genes associated with human MFM were not associated with PSSM2 in 392 QH. Their use would improperly diagnose PSSM2/MFM in 57% of healthy QH and fail to diagnose PSSM2 in 40% of QH with histopathological evidence of PSSM2.

Keyphrases

late onset
endothelial cells
copy number
muscular dystrophy
induced pluripotent stem cells