Article
Incomplete-penetrant hypertrophic cardiomyopathy MYH7 G256E mutation causes hypercontractility and elevated mitochondrial respiration.
Proceedings of the National Academy of Sciences of the United States of America - 7 May 2024
Lee Soah, Vander Roest Alison S, Blair Cheavar A, Kao Kerry, Bremner Samantha B, Childers Matthew C, Pathak Divya, Heinrich Paul, Lee Daniel, Chirikian Orlando, Mohran Saffie E, Roberts Brock, Smith Jacqueline E, Jahng James W, Paik David T, Wu Joseph C, Gunawardane Ruwanthi N, Ruppel Kathleen M, Mack David L, Pruitt Beth L, Regnier Michael, Wu Sean M, Spudich James A, Bernstein Daniel
Abstract excerpt
Determining the pathogenicity of hypertrophic cardiomyopathy-associated mutations in the β-myosin heavy chain (MYH7) can be challenging due to its variable penetrance and clinical severity. This study investigates the early pathogenic effects of the incomplete-penetrant MYH7 G256E mutation on myosin function that may trigger pathogenic adaptations and hypertrophy. We hypothesized that the G256E mutation would...
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