A Japanese patient with cardiomyopathy caused by a novel mutation R285X in the AGL gene

Circulation Journal

Volumn 71, Issue 10, 2007, Pages 1653-1656

  Ogimoto, Akiyoshi ^a   Okubo, Minoru ^b   Okayama, Hideki ^a   Shin, Yoon S ^c   Endo, Yoriko ^b   Ebara, Tetsu ^b   Inoue, Katsuji ^a   Ohtsuka, Tomoaki ^a   Tahara, Hideki ^d   Murase, Toshio ^b   Higaki, Jistuo ^a  

^a EHIME UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Okinaka Memorial Institute for Medical Research   (Japan)

^c Molecular Genetics and Metabolism Laboratory   (Germany)

^d OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Cardiomyopathy; Glycogen storage disease type III; Hepatomegaly; Hypoglycemia; Left ventricular hypertrophy; Nonsense mutation

Indexed keywords

GLYCOGEN DEBRANCHING ENZYME; OLIGONUCLEOTIDE; PROTEIN AGL; UNCLASSIFIED DRUG;

ADULT; ANAMNESIS; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CODON; DISEASE ASSOCIATION; DISEASE SEVERITY; DOPPLER ECHOCARDIOGRAPHY; ENZYME ACTIVITY; EXON; GENE SEQUENCE; GENETIC CODE; GLYCOGEN STORAGE DISEASE TYPE 3; HEART HYPERTROPHY; HEART LEFT VENTRICLE HYPERTROPHY; HEPATOMEGALY; HOMOZYGOSITY; HUMAN; HYPOGLYCEMIA; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PULSE WAVE;

ADULT; CODON, NONSENSE; DNA; ELECTROCARDIOGRAPHY; GENOTYPE; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE III; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; MALE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 34948888302     PISSN: 13469843     EISSN: 13474820     Source Type: Journal    
DOI: 10.1253/circj.71.1653     Document Type: Article

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