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Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy

2019-10-13

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is characterized by enlargement of the ventricular muscle without dilation and is often associated with dominant pathogenic variants in cardiac sarcomeric protein genes. Here, we report a family with two infants diagnosed with infantile-onset HCM and mitral valve dysplasia that led to death before one year of age. Using exome sequencing, we discovered that one of the affected chil...

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Literature Corpus work: 70e76a33-4d92-59fe-b286-1a9b80fae5aa
DOI: 10.1101/790196

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Novel frameshift variant in <i>MYL2</i> reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy

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