Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern

por Gaertner, Anna, Burr, Lidia, Klauke, Baerbel, Brodehl, Andreas, Laser, Kai Thorsten, Klingel, Karin, Tiesmeier, Jens, Schulz, Uwe, zu Knyphausen, Edzard, Gummert, Jan, Milting, Hendrik
Publicado 2022

High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation

por Klauke, Baerbel, Gaertner-Rommel, Anna, Schulz, Uwe, Kassner, Astrid, zu Knyphausen, Edzard, Laser, Thorsten, Kececioglu, Deniz, Paluszkiewicz, Lech, Blanz, Ute, Sandica, Eugen, van den Bogaerdt, Antoon J., van Tintelen, J. Peter, Gummert, Jan, Milting, Hendrik
Publicado 2017