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Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a genetic cardiomyopathy with a prevalence of about 1:200. It is characterized by left ventricular hypertrophy, diastolic dysfunction and interstitial fibrosis; HCM might lead to sudden cardiac death (SCD) especially in the young. Due to low autopsy f...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Gaertner‐Rommel, Anna, Tiesmeier, Jens, Jakob, Thomas, Strickmann, Bernd, Veit, Gunter, Bachmann‐Mennenga, Bernd, Paluszkiewicz, Lech, Klingel, Karin, Schulz, Uwe, Laser, Kai T., Karger, Bernd, Pfeiffer, Heidi, Milting, Hendrik
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6687666/
https://ncbi.nlm.nih.gov/pubmed/31293105
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.841
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