Article
Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.
Clinical genetics - 1 Oct 2020
Robinson H K, Zaklyazminskaya E, Povolotskaya I, Surikova Y, Mallin L, Armstrong C, Mabin D, Benke P J, Chrisant M R, McDonald M, Marboe C C, Agre K E, Deyle D R, McWalter K, Douglas G, Balashova M S, Kaimonov V, Shirokova N, Pomerantseva E, Turner C L, Ellard S
Abstract excerpt
Childhood dilated cardiomyopathy (DCM) is a leading cause of heart failure requiring cardiac transplantation and approximately 5% of cases result in sudden death. Knowledge of the underlying genetic cause can aid prognostication and clinical management and enables accurate recurrence risk counselling for the family. Here we used genomic sequencing to identify the causative genetic variant(s) in families with...
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