Glycogenin-1 deficiency and inactivated priming of glycogen synthesis

New England Journal of Medicine

Volumn 362, Issue 13, 2010, Pages 1203-1210

  Moslemi, Ali Reza ^a   Lindberg, Christopher ^a   Nilsson, Johanna ^a   Tajsharghi, Homa ^a   Andersson, Bert ^a   Oldfors, Anders ^a  

^a UNIVERSITY OF GOTHENBURG   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENERGIC RECEPTOR BLOCKING AGENT; BETA 1 ADRENERGIC RECEPTOR; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; GLYCOGEN; GLYCOGENIN; GLYCOGENIN 1; METHIONINE; THREONINE; UNCLASSIFIED DRUG; COMPLEMENTARY DNA; GLUCOSYLTRANSFERASE; GLYCOPROTEIN; MESSENGER RNA;

ADULT; ALLELE; ARTICLE; CASE REPORT; DEFIBRILLATOR; DIZZINESS; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; GENE SEQUENCE; GLYCOGEN STORAGE DISEASE; GLYCOGEN SYNTHESIS; GLYCOSYLATION; HEART ARRHYTHMIA; HEART PALPITATION; HEART VENTRICLE FIBRILLATION; HEART VENTRICLE TACHYCARDIA; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MITOCHONDRION; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE TWITCH; MUSCLE WEAKNESS; NONSENSE MUTATION; PRIORITY JOURNAL; SKELETAL MUSCLE; WESTERN BLOTTING; BIOSYNTHESIS; CHEMISTRY; DNA SEQUENCE; FEMALE; GENETICS; PATHOLOGY; PEDIGREE; STOP CODON;

ADULT; ARRHYTHMIAS, CARDIAC; CODON, NONSENSE; DIZZINESS; DNA, COMPLEMENTARY; FEMALE; GLUCOSYLTRANSFERASES; GLYCOGEN; GLYCOPROTEINS; HUMANS; MALE; MUSCLE, SKELETAL; MUTATION, MISSENSE; PEDIGREE; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA;

EID: 77950498558     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa0900661     Document Type: Article

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