| Naslov: | Clinical outcome of hypertrophic cardiomyopathy in probands with the founder variant c.913_914del in MYBPC3 : a Slovenian cohort study |
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| Avtorji: | ID Vodnjov, Nina (Avtor)
ID Maver, Aleš (Avtor)
ID Teran, Nataša (Avtor)
ID Peterlin, Borut (Avtor)
ID Toplišek, Janez (Avtor)
ID Writzl, Karin (Avtor) |
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| Datoteke: |  PDF - Predstavitvena datoteka, prenos (830,72 KB)
MD5: BA117B2718F257B073642194846CDE1E
 URL - Izvorni URL, za dostop obiščite https://link.springer.com/article/10.1007/s12265-024-10551-5
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| Jezik: | Angleški jezik |
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| Tipologija: | 1.01 - Izvirni znanstveni članek |
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| Organizacija: |  UKC LJ - Univerzitetni klinični center Ljubljana
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| Povzetek: | Hypertrophic cardiomyopathy is often caused by pathogenic MYBPC3 variants. The study of Italian patients with HCM and MYBPC3(NM_000256.3):c.913_914del showed a higher disease penetrance in males and a higher frequency of arrhythmias compared to patients with other likely pathogenic and pathogenic (LP/P) MYBPC3 variants. We investigated the clinical outcomes of Slovenian probands with MYBPC3 LP/P variants, estimated the variant penetrance and compared the results with an Italian study. We identified 31 haplotype-matched individuals with MYBPC3:c.913_914del and 34 individuals with other LP/P MYBPC3 variants. We observed some significant differences in clinical and echocardiographic characteristics and frequency of adverse cardiac events between Slovenian and Italian probands with MYBPC3:c913_914del. We were unable to replicate previous findings for MYBPC3:c.913_914del, highlighting the complexity of genotype–phenotype associations. |
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| Ključne besede: | cardiogenetics, cardiology, MYBPC3, hypertrophic cardiomyopathy |
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| Status publikacije: | Objavljeno |
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| Verzija publikacije: | Objavljena publikacija |
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| Leto izida: | 2025 |
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| Št. strani: | str. 110-120 |
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| Številčenje: | Vol. 18 |
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| PID: | 20.500.12556/DiRROS-28375  |
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| UDK: | 616.1:575 |
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| ISSN pri članku: | 1937-5395 |
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| DOI: | 10.1007/s12265-024-10551-5 |
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| COBISS.SI-ID: | 208400387 |
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| Opomba: | Nasl. z nasl. zaslona;
Opis vira dne 22. 9. 2024; |
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| Datum objave v DiRROS: | 16.03.2026 |
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| Število ogledov: | 57 |
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| Število prenosov: | 38 |
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| Metapodatki: |    |
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