Clinical and metabolic consequences of a historic pathogenic lamin A/C founder variant.
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| Title: | Clinical and metabolic consequences of a historic pathogenic lamin A/C founder variant. |
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| Authors: | Wong LY; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands., Torfs T; Department of Cardiology, Maastricht University, Maastricht, the Netherlands.; CARIM Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands., Vanherle SJV; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands., Janssen J; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands., Claes GRF; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Maastricht, the Netherlands., Stroeks SLVM; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; Department of Cardiology, Maastricht University, Maastricht, the Netherlands.; CARIM Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Maastricht, the Netherlands., Willemars MMA; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands.; CARIM Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands., Schianchi F; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands., Kapsokalyvas D; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands., Weltjens E; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands., Swinnen A; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands., Strzelecka A; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands., Krapels IPC; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Maastricht, the Netherlands., Heymans SRB; Department of Cardiology, Maastricht University, Maastricht, the Netherlands.; CARIM Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Maastricht, the Netherlands.; Centre of Cardiovascular Research, Centre for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium., Glatz J; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands., van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands., Brunner HG; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Broers J; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands., Luiken JFP; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands., Hoes MF; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; Department of Cardiology, Maastricht University, Maastricht, the Netherlands.; CARIM Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands., Verdonschot JAJ; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands. job.verdonschot@mumc.nl.; Department of Cardiology, Maastricht University, Maastricht, the Netherlands. job.verdonschot@mumc.nl.; CARIM Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands. job.verdonschot@mumc.nl.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Maastricht, the Netherlands. job.verdonschot@mumc.nl., Nabben M; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands. m.nabben@maastrichtuniversity.nl.; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands. m.nabben@maastrichtuniversity.nl.; Department of Cardiology, Maastricht University, Maastricht, the Netherlands. m.nabben@maastrichtuniversity.nl.; CARIM Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands. m.nabben@maastrichtuniversity.nl. |
| Source: | Scientific reports [Sci Rep] 2025 Jul 04; Vol. 15 (1), pp. 23842. Date of Electronic Publication: 2025 Jul 04. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2045-2322 |
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| DOI: | 10.1038/s41598-025-08495-0 |
