Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers

Abstract Background A causal genetic mutation is found in 40% of families with dilated cardiomyopathy (DCM), leaving a large percentage of families genetically unsolved. This prevents adequate counseling and clear recommendations in these families. We aim to identify novel genes or modifiers associa...

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Hlavní autoři: Job A. J. Verdonschot, Emma L. Robinson, Kiely N. James, Mohamed W. Mohamed, Godelieve R. F. Claes, Kari Casas, Els K. Vanhoutte, Mark R. Hazebroek, Gabriel Kringlen, Michele M. Pasierb, Arthur van denWijngaard, Jan F. C. Glatz, Stephane R. B. Heymans, Ingrid P. C. Krapels, Shareef Nahas, Han G. Brunner, Radek Szklarczyk
Médium: Artigo
Jazyk:Inglês
Vydáno: Wiley 2020-02-01
Edice:Molecular Genetics & Genomic Medicine
Témata:
dilated cardiomyopathy
genetic modifier
genetics
sarcomere
On-line přístup:https://doi.org/10.1002/mgg3.1049
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