Article
Creatine and L-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish.
Scientific reports - 4 Jun 2024
Pan Shao-Wei, Wang Horng-Dar, Hsiao He-Yun, Hsu Po-Jui, Tseng Yung-Che, Liang Wen-Chen, Jong Yuh-Jyh, Yuh Chiou-Hwa
Abstract excerpt
Lamin A/C gene (LMNA) mutations contribute to severe striated muscle laminopathies, affecting cardiac and skeletal muscles, with limited treatment options. In this study, we delve into the investigations of five distinct LMNA mutations, including three novel variants and two pathogenic variants identified in patients with muscular laminopathy. Our approach employs zebrafish models to comprehensively study these...
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