Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations.

Alexander Sonne,Anna Katarina Antonovic, Elise Melhedegaard,Fariha Akter,Jesper L Andersen,Heinz Jungbluth,Nanna Witting,John Vissing,Edmar Zanoteli,Arianna Fornili,Julien Ochala

Acta physiologica (Oxford, England)（2023）

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摘要

Altogether, our results suggest that RYR1 mutations have secondary negative consequences on myosin structure and function, likely contributing to the congenital myopathic phenotype.

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关键词

mutations,<i>ryr1</i>

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