Clinical and metabolic consequences of a historic pathogenic lamin A/C founder variant

Clinical and metabolic consequences of a historic pathogenic lamin A/C founder variant

Abstract A novel LMNA p.(Glu105Leu) variant was identified in five families with dilated cardiomyopathy (DCM), revealed as a local founder variant originating approximately 650 years ago. Genetic testing and clinical analysis of 795 DCM patients demonstrated that probands with this variant typically...

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Main Authors: L. Y. Wong, T. Torfs, S. J. V. Vanherle, J. Janssen, G. R. F. Claes, S. L. V. M. Stroeks, M. M. A. Willemars, F. Schianchi, D. Kapsokalyvas, E. Weltjens, A. Swinnen, A. Strzelecka, I. P. C. Krapels, S. R. B. Heymans, J. Glatz, A. van den Wijngaard, H. G. Brunner, J. Broers, J. F. P. Luiken, M. F. Hoes, J. A. J. Verdonschot, M. Nabben
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-025-08495-0
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https://doi.org/10.1038/s41598-025-08495-0

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