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Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3

7 Dec 2020

Abstract excerpt

Purpose Variants in genes encoding sarcomeric proteins are the most common cause of inherited cardiomyopathies. However, the underlying genetic cause remains unknown in many cases. We used exome sequencing to reveal the genetic etiology in patients with recessive familial cardiomyopathy. Methods Exome sequencing was carried out in three consanguineous families. Functional assessment of the variants was performed....

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PMID: 33288880
DOI: 10.1038/s41436-020-01028-2

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