Article

Homologous mutations in β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation

2023-07-02

Abstract excerpt

Mutations at a highly conserved homologous residue in three closely related muscle myosins cause three distinct diseases involving muscle defects: R671C in β-cardiac myosin causes hypertrophic cardiomyopathy, R672C and R672H in embryonic skeletal myosin cause Freeman Sheldon syndrome, and R674Q in perinatal skeletal myosin causes trismus- pseudocamptodactyly syndrome. It is not known if their effects at the molecu...

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Literature Corpus work: 1826357a-9eda-5bf5-b88c-9033cf3df097
DOI: 10.1101/2023.07.02.547385

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