Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.

doi:10.1007/s00439-020-02188-6

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Article

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.

Human genetics - 1 Nov 2020

Ganapathi Mythily, Argyriou Loukas, Martínez-Azorín Francisco, Morlot Susanne, Yigit Gökhan, Lee Teresa M, Auber Bernd, von Gise Alexander, Petrey Donald S, Thiele Holger, Cyganek Lukas, Sabater-Molina María, Ahimaz Priyanka, Cabezas-Herrera Juan, Sorlí-García Moisés, Zibat Arne, Siegelin Markus D, Burfeind Peter, Buchovecky Christie M, Hasenfuss Gerd, Honig Barry, Li Yun, Iglesias Alejandro D, Wollnik Bernd

Abstract excerpt

Dilated cardiomyopathy (DCM) belongs to the most frequent forms of cardiomyopathy mainly characterized by cardiac dilatation and reduced systolic function. Although most cases of DCM are classified as sporadic, 20-30% of cases show a heritable pattern. Familial forms of DCM are genetically heterogeneous, and mutations in several genes have been identified that most commonly play a role in cytoskeleton and...

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PMID: 32514796
DOI: 10.1007/s00439-020-02188-6
PMCID: PMC7519902

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Source receipt: pubmed, retrieved 7 Sept 2026.

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