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Differential Analysis of Gly211Val and Gly286Val Mutations Affecting Sarco(endo)plasmic Reticulum Ca(2+)-ATPase (SERCA1) in Congenital Pseudomyotonia Romagnola Cattle

Congenital pseudomyotonia in cattle (PMT) is a rare skeletal muscle disorder, clinically characterized by stiffness and by delayed muscle relaxation after exercise. Muscle relaxation impairment is due to defective content of the Sarco(endo)plasmic Reticulum Ca(2+) ATPase isoform 1 (SERCA1) protein,...

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Detalles Bibliográficos
Autores principales: Akyürek, Eylem Emek, Busato, Francesca, Murgiano, Leonardo, Bianchini, Elisa, Carotti, Marcello, Sandonà, Dorianna, Drögemüller, Cord, Gentile, Arcangelo, Sacchetto, Roberta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9604440/
https://www.ncbi.nlm.nih.gov/pubmed/36293223
http://dx.doi.org/10.3390/ijms232012364