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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,...
Autores principales: | Akyürek, Eylem Emek, Busato, Francesca, Murgiano, Leonardo, Bianchini, Elisa, Carotti, Marcello, Sandonà, Dorianna, Drögemüller, Cord, Gentile, Arcangelo, Sacchetto, Roberta |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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 |
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