Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy

Journal of Clinical Investigation

Volumn 109, Issue 3, 2002, Pages 357-362

  Arad, Michael ^a   Woodrow Benson, D ^b   Perez Atayde, Antonio R ^c   McKenna, William J ^d   Sparks, Elizabeth A ^e   Kanter, Ronald J ^f   McGarry, Kate ^g   Seidman, J G ^a   Seidman, Christine E ^a,h,i  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^e THE OHIO STATE UNIVERSITY WEXNER MEDICAL CENTER   (United States)

^f DUKE UNIVERSITY MEDICAL CENTER   (United States)

^g Our Lady's Hospital ^*  (Ireland)

^h BRIGHAM AND WOMEN S HOSPITAL   (United States)

ⁱ HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLATE KINASE; ARGININE; GLYCOGEN; PHOSPHOTRANSFERASE; REGULATOR PROTEIN; THREONINE;

ADULT; ARTICLE; ATRIOVENTRICULAR BLOCK; CELL VACUOLE; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; FIBROSING ALVEOLITIS; GENE MUTATION; GLYCOGEN STORAGE DISEASE; HEART ELECTROPHYSIOLOGY; HEART PREEXCITATION; HEART VENTRICLE HYPERTROPHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; MALE; MUSCLE CELL; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SARCOMERE; WOLFF PARKINSON WHITE SYNDROME; YEAST;

EID: 0036167225     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI0214571     Document Type: Article

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