New pathogenic mutation in LMNA gene: Clinical case of familial cardiomyopathy
We present a clinical case of familial <i>LMNA</i>-associated cardiomyopathy, confirmed by whole genome sequencing. The typical for lamin-associated cardiomyopathy indicates pathogenic nature of the mutation in the first exon of <i>LMNA</i> gene, previously considered a mutation of unknown clinical significance. The presented clinical case demonstrates a radical change in patient treatment strategies in the context of the widespread introduction of molecular genetic research methods into practice.
Authors
- S. A. Kraevoy (ORCID: https://orcid.org/0000-0003-1775-9235)
- Irina Dzhumaniiazova (ORCID: https://orcid.org/0000-0001-5167-2112)
- Н. А. Миронова (ORCID: https://orcid.org/0000-0002-2374-3718)
- A. I. Nekrasova (ORCID: https://orcid.org/0000-0002-7951-2003)
- S. M. Yudin (ORCID: https://orcid.org/0000-0002-7942-8004)
- E. M. Rimskaya (ORCID: https://orcid.org/0000-0002-0063-5474)
- Anton А. Keskinov (ORCID: https://orcid.org/0000-0001-7378-983X)
- Alexey N. Meshkov (ORCID: https://orcid.org/0000-0001-5989-6233)
- Д. А. Каштанова (ORCID: https://orcid.org/0000-0001-8977-4384)
- Еlena Zelenova (ORCID: https://orcid.org/0000-0003-4604-7261)
- V. S. Yudin (ORCID: https://orcid.org/0000-0002-9199-6258)
- Veronika V. Erema (ORCID: https://orcid.org/0000-0003-0547-3280)
- Golitsyn Sp (ORCID: https://orcid.org/0000-0001-9913-9974)
- S. Yu. Kashtanova (ORCID: https://orcid.org/0000-0003-4731-0818)
- Sergey I. Mitrofanov (ORCID: https://orcid.org/0000-0003-0358-0568)
- M. V. Ivanov (ORCID: https://orcid.org/0009-0004-7070-5636)
- Yulia N. Vanyushina
Institutions
- Center for Strategic Research (RU)
- National Medical Research Center of Cardiology (RU)
Publication Details
- Journal
- Terapevticheskii arkhiv
- Published
- 2025-02-20
- DOI
- https://doi.org/10.26442/00403660.2025.01.203030
- Primary Topic
- Nuclear Structure and Function
- Type
- article
- Field-Weighted Citation Impact
- 0.00