The novel pathogenic variant in the LMNA gene in a four-generation family with sudden deaths and cardiomyopathy: Utility of molecular autopsy
Kardiol Pol
.
2021;79(12):1368-1371.
doi: 10.33963/KP.a2021.0148.
Epub 2021 Nov 3.
Authors
Agnieszka Zienciuk-Krajka
1
,
Magdalena Chmara
2
3
4
,
Monika Lica-Gorzynska
5
,
Karolina Dorniak
6
,
Joanna Kwiatkowska
7
,
Jacek Kowalski
8
,
Damian Kaufmann
9
,
Ludmiła Daniłowicz-Szymanowicz
9
,
Grzegorz Raczak
9
Affiliations
1
Department of Cardiology and Electrotherapy, Medical University of Gdansk, Gdańsk, Poland.
[email protected]
.
2
Department of Biology and Genetics, Medical University of Gdansk, Gdańsk, Poland.
3
Laboratory of Clinical Genetics, University Clinical Center, Gdańsk, Poland.
4
Translational Medicine Center, Medical University of Gdansk, Gdańsk, Poland.
5
Cardiology Unit, JK Łukowicz Specialist Hospital, Chojnice, Poland.
6
Department of Noninvasive Cardiac Diagnostics, Medical University of Gdansk, Gdańsk, Poland.
7
Department of Pediatric Cardiology and Congenital Heart Defect, Medical University of Gdansk, Gdańsk, Poland.
8
Department of Pathomorphology, Medical University of Gdansk, Gdańsk, Poland.
9
Department of Cardiology and Electrotherapy, Medical University of Gdansk, Gdańsk, Poland.
PMID:
34729735
DOI:
10.33963/KP.a2021.0148
No abstract available
MeSH terms
Autopsy
Cardiomyopathies* / genetics
Death, Sudden, Cardiac / etiology
Humans
Lamin Type A / genetics
Mutation
Pedigree
Substances
LMNA protein, human
Lamin Type A