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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

BACKGROUND: Genetic tests for variants in MYOT (P2; rs1138656462), FLNC (P3a; rs1139799323 or P3b; rs1142918816) and MYOZ3 (P4; rs1142544043) genes are offered commercially to diagnose myofibrillar myopathy (MFM) and type 2 polysaccharide storage myopathy (PSSM2) in Quarter Horses (QH). OBJECTIVES:...

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Detalles Bibliográficos
Autores principales: Valberg, Stephanie J., Henry, Marisa L., Herrick, Keely L., Velez‐Irizarry, Deborah, Finno, Carrie J., Petersen, Jessica L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10084132/
https://www.ncbi.nlm.nih.gov/pubmed/35288976
http://dx.doi.org/10.1111/evj.13574