Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy

BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is a heritable cardiac disease with two main features: electric instability and myocardial fibro-fatty replacement. There is no defined treatment except for preventing arrhythmias and sudden death. Detecting causative mutations helps identify the disea...

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Detalles Bibliográficos
Autores principales: Kalayinia, Samira, Mahdavi, Mohammad, Houshmand, Golnaz, Hesami, Mahshid, Pourirahim, Maryam, Maleki, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356459/
https://www.ncbi.nlm.nih.gov/pubmed/35933355
http://dx.doi.org/10.1186/s12872-022-02802-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356459/
https://www.ncbi.nlm.nih.gov/pubmed/35933355
http://dx.doi.org/10.1186/s12872-022-02802-7

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