Mutation in the γ2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: Evidence for the central role of energy compromise in disease pathogenesis

Human Molecular Genetics

Volumn 10, Issue 11, 2001, Pages 1215-1220

  Blair, Edward ^a   Redwood, Charles ^a   Ashrafian, Houman ^a   Oliveira, Marisa ^a   Broxholme, John ^b   Kerr, Bronwyn ^c   Salmon, Anthony ^d   Östman Smith, Ingegerd ^e   Watkins, Hugh ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^d SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^e JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE PHOSPHATE; ADENOSINE TRIPHOSPHATE; CONTRACTILE PROTEIN; GENE PRODUCT; MUTANT PROTEIN; PRKAG 2 PROTEIN; PROTEIN KINASE; PROTEIN SUBUNIT; UNCLASSIFIED DRUG; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE KINASE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE KINASE GAMMA 2 SUBUNIT;

ADULT; ARTICLE; CELL PROTECTION; CHILD; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DISEASE SEVERITY; ENERGY; FAMILIAL DISEASE; FEMALE; GENE INSERTION; GENETIC CODE; GENETIC CONSERVATION; HEART; HEART ATRIUM; HEART MUSCLE CONDUCTION DISTURBANCE; HEART VENTRICLE; HEART VENTRICLE HYPERTROPHY; HOMEOSTASIS; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; HYPOTHESIS; MALE; MISSENSE MUTATION; MODEL; MYOCARDIAL DISEASE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PATHOGENICITY; PRIORITY JOURNAL; SARCOMERE; SUDDEN DEATH; WOLFF PARKINSON WHITE SYNDROME; AMINO ACID SEQUENCE; ELECTROCARDIOGRAPHY; EXON; GENETIC PREDISPOSITION; GENETICS; INTRON; METABOLISM; MOLECULAR GENETICS; MUTATION; PEDIGREE; SEQUENCE HOMOLOGY; AGED; ENERGY EXPENDITURE; EXHAUSTION; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; FAMILY; GENE MUTATION; HEART CONDUCTION; HEART HEMODYNAMICS; HEART MUSCLE CONTRACTILITY; HEMOSTASIS; MIDDLE AGED; PRESCHOOL CHILD; SCHOOL CHILD; SUDDEN CARDIAC DEATH; YOUNG ADULT;

AMINO ACID SEQUENCE; CARDIOMYOPATHY, HYPERTROPHIC; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; EXONS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN KINASES; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0035872209     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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