Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the γ2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency

American Journal of Human Genetics

Volumn 76, Issue 6, 2005, Pages 1034-1049

  Burwinkel, Barbara ^a,g   Scott, John W ^b   Bührer, Christoph ^c,h   Van Landeghem, Frank K H ^c   Cox, Gerald F ^d,i   Wilson, Callum J ^e,j   Hardie, D Grahame ^b   Kilimann, Manfred W ^a,f  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b UNIVERSITY OF DUNDEE   (United Kingdom)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^f UPPSALA UNIVERSITY   (Sweden)

^g GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^h UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

ⁱ GENZYME CORPORATION   (United States)

^j STARSHIP CHILDREN S HOSPITAL   (New Zealand)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOGEN PHOSPHORYLASE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE KINASE; PHOSPHORYLASE KINASE;

ARTICLE; BINDING AFFINITY; CASE REPORT; CONTROLLED STUDY; ENERGY BALANCE; ENZYME DEFICIENCY; ENZYME PHOSPHORYLATION; ENZYME SUBUNIT; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE; GLYCOGEN STORAGE DISEASE; HEART DEATH; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; MISSENSE MUTATION; NEWBORN; PRIORITY JOURNAL; PROTEIN BINDING; WOLFF PARKINSON WHITE SYNDROME;

EID: 18944396765     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/430840     Document Type: Article

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