Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset

About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely pathogenic mutation in the desmosomal genes. However, there is a significant number of patients without positive familial anamnesis. Therefore, the molecular reasons for ACM in these patients are frequently u...

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Detalles Bibliográficos
Autores principales: Brodehl, Andreas, Meshkov, Alexey, Myasnikov, Roman, Kiseleva, Anna, Kulikova, Olga, Klauke, Bärbel, Sotnikova, Evgeniia, Stanasiuk, Caroline, Divashuk, Mikhail, Pohl, Greta Marie, Kudryavtseva, Maria, Klingel, Karin, Gerull, Brenda, Zharikova, Anastasia, Gummert, Jan, Koretskiy, Sergey, Schubert, Stephan, Mershina, Elena, Gärtner, Anna, Pilus, Polina, Laser, Kai Thorsten, Sinitsyn, Valentin, Boytsov, Sergey, Drapkina, Oxana, Milting, Hendrik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8038858/
https://www.ncbi.nlm.nih.gov/pubmed/33917638
http://dx.doi.org/10.3390/ijms22073786

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