Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes

Molecular Genetics and Metabolism

Volumn 84, Issue 1, 2005, Pages 75-82

  Wang, Liya ^a   Limongelli, Anna ^b   Vila, Maya R ^c   Carrara, Franco ^b   Zeviani, Massimo ^b   Eriksson, Staffan ^a  

^a SWEDISH UNIVERSITY OF AGRICULTURAL SCIENCES   (Sweden)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

Deoxyguanosine kinase; Enzyme kinetic; Mitochondrial DNA depletion; Mitochondrial DNA depletion syndrome; Mutagenesis; Mutation; Thymidine kinase 2

Indexed keywords

DEOXYGUANOSINE KINASE; MITOCHONDRIAL DNA; THYMIDINE KINASE; THYMIDINE KINASE 2; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE ASSOCIATION; ENZYME ACTIVITY; GENE MUTATION; GENERAL CONDITION DETERIORATION; HETEROZYGOTE; HUMAN; LIVER FAILURE; MALE; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL DNA DEPLETION SYNDROME; MITOCHONDRIAL MYOPATHY; MUSCLE WEAKNESS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SITE DIRECTED MUTAGENESIS; WILD TYPE;

CHILD, PRESCHOOL; CHROMATOGRAPHY, GEL; DNA PRIMERS; DNA, COMPLEMENTARY; DNA, MITOCHONDRIAL; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; LIVER; MALE; MITOCHONDRIAL MYOPATHIES; MUSCLE, SKELETAL; MUTAGENESIS, SITE-DIRECTED; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; THYMIDINE KINASE;

EID: 11444270727     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.09.005     Document Type: Article

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