Article

FLNC and MYLK2 gene mutations in a Chinese family with different phenotypes of cardiomyopathy

2020-05-18

Abstract excerpt

<h4>Background: </h4> Mutations in the sarcomeric protein filamin C (FLNC) gene have been linked to hypertrophic cardiomyopathy (HCM), in which they increase the risk of ventricular arrhythmia and sudden death. In this study, we identified a novel missense mutation of FLNC in a Chinese family with HCM and interestingly a second novel truncating mutation of MYLK2 in one family member with different phenotype. <h4>M...

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Identifiers and source

Literature Corpus work: 50c450f5-9987-5d32-b367-016300b7e30c
DOI: 10.1101/2020.05.10.20097519

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