TY  - GEN 
AU  - Hu, D.
AU  - Hu, D.
AU  - Liu, L.
AU  - Barr, D.
AU  - Liu, Y.
AU  - Balderrabano-Saucedo, N.
AU  - Wang, B.
AU  - Zhu, F.
AU  - Xue, Y.
AU  - Wu, S.
AU  - Song, B.
AU  - McManus, H.
AU  - Murphy, K.
AU  - Loes, K.
AU  - Adler, A.
AU  - Monserrat Iglesias, Lorenzo
AU  - Antzelevitch, C.
AU  - Gollob, M.H.
AU  - Elliott, P.M.
AU  - Barajas-Martinez, H.
PY  - 2020
SN  - 2352-3964
UR  - http://hdl.handle.net/20.500.11940/16781
AB  - 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...
KW  - Protein Stability
KW  - Adult
KW  - Humans
KW  - Genetics
KW  - Molecular Dynamics Simulation
KW  - Pedigree
KW  - Adenosine Triphosphate
KW  - Heterozygote
KW  - Glycogen Storage Disease
KW  - AMP-Activated Protein Kinases
KW  - Myocardium
KW  - Heart Failure
KW  - Death
TI  - Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease
DO  - 10.1016/j.ebiom.2020.102723
KW  - INIBIC
VL  - 54
ER  -