New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome

Archives of Neurology

Volumn 62, Issue 5, 2005, Pages 745-747

  Mancuso, Michelangelo ^a,b   Ferraris, Silvia ^a   Pancrudo, Jacklyn ^a   Feigenbaum, Annette ^c   Raiman, Julian ^c   Christodoulou, John ^d   Thorburn, David R ^d   DiMauro, Salvatore ^a  

^a New York Presbyterian Columbia University Medical Center   (United States)

^b UNIVERSITY OF PISA   (Italy)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

BILIRUBIN; CYTOCHROME C OXIDASE; DEOXYGUANOSINE KINASE; LACTIC ACID; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DGK GENE; DYSPLASIA; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; INFANT; LIVER BIOPSY; LIVER CIRRHOSIS; LIVER FAILURE; MICROCEPHALY; MITOCHONDRIAL DNA DEPLETION SYNDROME; MUSCLE HYPOTONIA; NYSTAGMUS; OPTIC DYSPLASIA; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SIBLING;

BLOTTING, NORTHERN; DNA MUTATIONAL ANALYSIS; FEMALE; HEPATIC ENCEPHALOPATHY; HOMOZYGOTE; HUMANS; INFANT; LIVER; MITOCHONDRIAL DISEASES; MUSCLES; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SIBLINGS;

EID: 18544364815     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.62.5.745     Document Type: Article

References (13)

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