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

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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Bibliographic Details
Main Authors: Dan Hu, Dong Hu, Liwen Liu, Daniel Barr, Yang Liu, Norma Balderrabano-Saucedo, Bo Wang, Feng Zhu, Yumei Xue, Shulin Wu, BaoLiang Song, Heather McManus, Katherine Murphy, Katherine Loes, Arnon Adler, Lorenzo Monserrat, Charles Antzelevitch, Michael H. Gollob, Perry M. Elliott, Hector Barajas-Martinez
Format: Article
Language:English
Published: Elsevier 2020-04-01
Series:EBioMedicine
Online Access:http://www.sciencedirect.com/science/article/pii/S2352396420300980

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http://www.sciencedirect.com/science/article/pii/S2352396420300980

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