Identification of a Novel De Novo Mutation Associated with PRKAG2 Cardiac Syndrome and Early Onset of Heart Failure

PLoS ONE

Volumn 8, Issue 5, 2013, Pages

  Liu, Yang ^a,b   Bai, Rong ^a   Wang, Lin ^a   Zhang, Cuntai ^a   Zhao, Ruifu ^a   Wan, Deli ^a   Chen, Xinshan ^a   Caceres, Gabriel ^c   Barr, Daniel ^d   Barajas Martinez, Hector ^c   Antzelevitch, Charles ^c   Hu, Dan ^c  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b GUANGDONG PROVINCIAL PEOPLE'S HOSPITAL   (China)

^c MASONIC MEDICAL RESEARCH LABORATORY   (United States)

^d UTICA COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID; GLYCOGEN; LYSINE; MITOGEN ACTIVATED PROTEIN KINASE; MUTANT PROTEIN; NUCLEOTIDE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ATRIOVENTRICULAR CONDUCTION; BRADYCARDIA; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA SEQUENCE; ELECTROPHYSIOLOGY; FEMALE; FIBROSING ALVEOLITIS; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; HEART ACCESSORY CONDUCTION PATHWAY; HEART FAILURE; HEART LEFT VENTRICLE HYPERTROPHY; HEART MUSCLE BIOPSY; HEART PREEXCITATION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LIPID STORAGE; MALE; MATHEMATICAL MODEL; MUSCLE ATROPHY; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOGENESIS; PHASE TRANSITION; PRKAG2 GENE; PROTEIN FUNCTION; PROTEIN STRUCTURE; STATIC ELECTRICITY;

ADOLESCENT; ADULT; AGE OF ONSET; AMINO ACID SUBSTITUTION; AMP-ACTIVATED PROTEIN KINASES; CASE-CONTROL STUDIES; FEMALE; HEART FAILURE; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; MALE; MUTATION; PROTEIN CONFORMATION; STATIC ELECTRICITY;

EID: 84878607812     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0064603     Document Type: Article

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