A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy

BACKGROUND: DES mutations cause different cardiac and skeletal myopathies. Most of them are missense mutations. METHODS: Using a next‐generation sequencing cardiac 174 gene panel, we identified a novel heterozygous in‐frame indel mutation (DES‐c.493_520del28insGCGT, p.Q165_A174delinsAS) in a Caucasi...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Schirmer, Ilona, Dieding, Mareike, Klauke, Bärbel, Brodehl, Andreas, Gaertner‐Rommel, Anna, Walhorn, Volker, Gummert, Jan, Schulz, Uwe, Paluszkiewicz, Lech, Anselmetti, Dario, Milting, Hendrik
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Clinical Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5902401/
https://ncbi.nlm.nih.gov/pubmed/29274115
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.358
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