Article
Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations.
American journal of physiology. Cell physiology - 1 Mar 2023
Sonne Alexander, Peverelli Lorenzo, Hernandez-Lain Aurelio, Domínguez-González Cristina, Andersen Jesper L, Milone Margherita, Beggs Alan H, Ochala Julien
Abstract excerpt
Congenital myopathies are a vast group of genetic muscle diseases. Among the causes are mutations in the MYH2 gene resulting in truncated type IIa myosin heavy chains (MyHCs). The precise cellular and molecular mechanisms by which these mutations induce skeletal muscle symptoms remain obscure. Hence, in the present study, we aimed to explore whether such genetic defects would alter the presence as well as the...
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