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Differential Analysis of Gly211Val and Gly286Val Mutations Affecting Sarco(endo)plasmic Reticulum Ca2+-ATPase (SERCA1) in Congenital Pseudomyotonia Romagnola Cattle.

International journal of molecular sciences - 15 Oct 2022

Akyürek Eylem Emek, Busato Francesca, Murgiano Leonardo, Bianchini Elisa, Carotti Marcello, Sandonà Dorianna, Drögemüller Cord, Gentile Arcangelo, Sacchetto Roberta

Abstract excerpt

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 Ca2+ ATPase isoform 1 (SERCA1) protein, caused by missense mutations in the ATP2A1 gene. PMT represents the only mammalian model of human Brody myopathy. In...

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PMID: 36293223
DOI: 10.3390/ijms232012364
PMCID: PMC9604440

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