Article

Phenotypic and genetic factors are associated with absence of cardiomyopathy symptoms in PLN c.40_42delAGA carriers

2022-05-16

Abstract excerpt

The c.40_42delAGA variant in the phospholamban gene ( PLN ) has been associated with dilated and arrhythmogenic cardiomyopathy, with up to 70% of carriers experiencing a major cardiac event by age 70. However, other carriers remain asymptomatic or show only mild symptoms in old age. To understand the mechanisms behind this incomplete penetrance, we evaluated potential phenotypic and genetic modifiers in 74 PLN c.4...

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Literature Corpus work: cb889f6e-f976-5c9c-b9d6-58f89c1b3b9f
DOI: 10.1101/2022.05.12.22274763

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