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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Publicado no:Int J Mol Sci
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
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Article
Acesso em linha: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
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