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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Int J Mol Sci
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: MDPI 2021
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8038858/
https://ncbi.nlm.nih.gov/pubmed/33917638
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22073786
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires