Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy

Molecular Genetics and Metabolism

Volumn 107, Issue 1-2, 2012, Pages 92-94

  Buchaklian, Adam H ^a   Helbling, Daniel ^a   Ware, Stephanie M ^b   Dimmock, David P ^a  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

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

Author keywords

DGUOK deficiency; Hepatocerebral; Mitochondrial DNA depletion

Indexed keywords

DEOXYGUANOSINE KINASE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; MITOCHONDRIAL DNA;

ABDOMINAL PAIN; ACUTE LIVER FAILURE; ADULT; ARTICLE; CASE REPORT; CELL DIFFERENTIATION; ECHOCARDIOGRAPHY; ELECTRON MICROSCOPY; FATIGUE; FIBROBLAST; GENE DOSAGE; GENE MUTATION; HEART FUNCTION; HUMAN; HUMAN CELL; LEFT VENTRICULAR SYSTOLIC DYSFUNCTION; MALE; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL DNA DEPLETION SYNDROME; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PRIORITY JOURNAL; TACHYCARDIA;

AGE OF ONSET; CELL LINE; DNA, MITOCHONDRIAL; FIBROBLASTS; GENE DOSAGE; GENES, RECESSIVE; HUMANS; MITOCHONDRIAL MYOPATHIES; MYOD PROTEIN; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR);

EID: 84866161826     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.04.019     Document Type: Article

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