X-linked Creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model

PURPOSE: Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). CTD features include developmental delay, seizures and autism spectrum disorder. This study was designed to investigate CTD cardiac phenotype and sudden de...

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Detalles Bibliográficos
Autores principales: Levin, Mark D., Bianconi, Simona, Smith, Andrew, Cawley, Niamh X., Do, An Dang, Hammond, Dylan, Grafstein, Julia F., Thurm, Audrey, Miller, Judith, Perreault, John, Noguchi, Audrey, Springer, Danielle, Kozel, Beth A., Spurney, Christopher F., Wassif, Christopher A., Yu, Zu-Xi, Schulze, Andreas, Porter, Forbes D., Hannah-Shmouni, Fady
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8487919/
https://www.ncbi.nlm.nih.gov/pubmed/34050321
http://dx.doi.org/10.1038/s41436-021-01224-8

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