Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease

BACKGROUND: Although 21 causative mutations have been associated with PRKAG2 syndrome, our understanding of the syndrome remains incomplete. The aim of this project is to further investigate its unique genetic background, clinical manifestations, and underlying structural changes. METHODS: We recrui...

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Detalles Bibliográficos
Autores principales: Hu, Dan, Hu, Dong, Liu, Liwen, Barr, Daniel, Liu, Yang, Balderrabano-Saucedo, Norma, Wang, Bo, Zhu, Feng, Xue, Yumei, Wu, Shulin, Song, BaoLiang, McManus, Heather, Murphy, Katherine, Loes, Katherine, Adler, Arnon, Monserrat, Lorenzo, Antzelevitch, Charles, Gollob, Michael H., Elliott, Perry M., Barajas-Martinez, Hector
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7132172/
https://www.ncbi.nlm.nih.gov/pubmed/32259713
http://dx.doi.org/10.1016/j.ebiom.2020.102723

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