2024
DOI: 10.1038/s41598-024-63711-7
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Creatine and l-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish

Shao-Wei Pan,
Horng-Dar Wang,
He-Yun Hsiao
et al.

Abstract: 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 variants. Transgenic zebrafish expressing wild-type LMNA and each mutation undergo extensive morphol… Show more

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