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Article

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

Proceedings of the National Academy of Sciences of the United States of America - 27 Feb 2024

Liu Chao, Karabina Anastasia, Meller Artur, Bhattacharjee Ayan, Agostino Colby J, Bowman Greg R, Ruppel Kathleen M, Spudich James A, Leinwand Leslie A

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 whether their effects at the...

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Identifiers

PMID: 38377203
DOI: 10.1073/pnas.2315472121
PMCID: PMC10907259

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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