Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene

Molecular Genetics and Metabolism

Volumn 110, Issue 1-2, 2013, Pages 153-161

  Chanprasert, Sirisak ^a   Wang, Jing ^a   Weng, Shao Wen ^a,b   Enns, Gregory M ^f   Boué, Daniel R ^c   Wong, Brenda L ^d   Mendell, Jerry R ^c   Perry, Deborah A ^e   Sahenk, Zarife ^c   Craigen, William J ^a,j   Alcala, Francisco J Climent ^h   Pascual, Juan M ^g   Melancon, Serge ⁱ   Zhang, Victor Wei ^a   Scaglia, Fernando ^a,j   Wong, Lee Jun C ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

^c NATIONWIDE CHILDREN S HOSPITAL   (United States)

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

^e UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^f STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^h HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

ⁱ MCGILL UNIVERSITY   (Canada)

^j TEXAS CHILDREN S HOSPITAL   (United States)

more..

Author keywords

Myopathic mtDNA depletion syndrome; Thymidine kinase 2 gene

Indexed keywords

ALANINE AMINOTRANSFERASE; CREATINE KINASE; PYRIMIDINE NUCLEOSIDE; THYMIDINE KINASE; MITOCHONDRIAL DNA; THYMIDINE KINASE 2;

ADULT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASSISTED VENTILATION; BREATHING MUSCLE; CHILD; CREATINE KINASE BLOOD LEVEL; DNA MICROARRAY; ENZYME ACTIVITY; ENZYME PHOSPHORYLATION; FEMALE; GENE MUTATION; HUMAN; INFANT; LUNG FUNCTION; MAJOR CLINICAL STUDY; MALE; MITOCHONDRIAL DNA DEPLETION SYNDROME; MOLECULAR DYNAMICS; MUSCLE BIOPSY; MUSCLE WEAKNESS; NERVE CONDUCTION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POSITIVE END EXPIRATORY PRESSURE; PREECLAMPSIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN STRUCTURE; QT PROLONGATION; QUANTITATIVE ANALYSIS; RESPIRATORY CHAIN; RESPIRATORY FAILURE; SCHOOL CHILD; SEQUENCE ANALYSIS; SKELETAL MUSCLE; ADOLESCENT; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SEQUENCE; ENZYMOLOGY; GENETICS; MIDDLE AGED; MUSCLE DISEASE; MUTATION; PATHOLOGY; PEDIGREE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; FEMALE; HUMANS; INFANT; MALE; MIDDLE AGED; MITOCHONDRIAL DISEASES; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PEDIGREE; SEQUENCE ANALYSIS, DNA; THYMIDINE KINASE;

EID: 84882856237     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.07.009     Document Type: Article

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