Related Experiment Video
Updated: May 13, 2025
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
[New pathogenic mutation in LMNA gene: Clinical case of familial cardiomyopathy]
S Y Kashtanova1, E М Rimskaya1, A N Meshkov1,2
1Chazov National Medical Research Center of Cardiology.
Abstract:
We present a clinical case of familial LMNA-associated cardiomyopathy, confirmed by whole genome sequencing. The typical for lamin-associated cardiomyopathy indicates pathogenic nature of the mutation in the first exon of LMNA 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.
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