Article
Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease.
EBioMedicine - 1 Apr 2020
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
Abstract excerpt
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 recruited 885 hypertrophic cardiomyopathy (HCM) probands and their families internationally. Targeted next-generation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.