Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect

Here, we present a small Iranian family, where the index patient received a diagnosis of restrictive cardiomyopathy (RCM) in combination with atrioventricular (AV) block. Genetic analysis revealed a novel homozygous missense mutation in the DES gene (c.364T > C; p.Y122H), which is absent in human...

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Detalles Bibliográficos
Autores principales: Brodehl, Andreas, Pour Hakimi, Seyed Ahmad, Stanasiuk, Caroline, Ratnavadivel, Sandra, Hendig, Doris, Gaertner, Anna, Gerull, Brenda, Gummert, Jan, Paluszkiewicz, Lech, Milting, Hendrik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896098/
https://www.ncbi.nlm.nih.gov/pubmed/31718026
http://dx.doi.org/10.3390/genes10110918

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