Syndromes associated with mitochondrial DNA depletion

Italian Journal of Pediatrics

Volumn 40, Issue 1, 2014, Pages

  Nogueira, Célia ^a   Almeida, Ligia S ^a   Nesti, Claudia ^b   Pezzini, Ilaria ^b   Videira, Arnaldo ^c   Vilarinho, Laura ^a   Santorelli, Filippo M ^b  

^a NATIONAL INSTITUTE OF HEALTH   (Portugal)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^c UNIVERSITY OF PORTO   (Portugal)

Author keywords

Alpers Huttenlocher syndrome; Hepatocerebral syndrome; Mitochondrial DNA depletion syndrome; Mitochondrial encephalomyopathy; Mitochondrial myopathy; mtDNA; OxPhos

Indexed keywords

DEOXYGUANOSINE KINASE; MITOCHONDRIAL DNA; SUCCINYL COENZYME A SYNTHETASE; THYMIDINE KINASE;

C10ORF2 GENE; CLINICAL FEATURE; ENCEPHALOMYOPATHIC MITOCHONRIAL DNA DEPLETION SYNDROME; GENE; GENE MUTATION; HUMAN; MITOCHONDRIAL DNA DEPLETION SYNDROME; MNGIE SYNDROME; MOLECULAR PATHOLOGY; MPV17 GENE; PHENOTYPE; POLG GENE; REVIEW; RRM2B GENE; TYMP GENE;

DNA, MITOCHONDRIAL; HUMANS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION; SYNDROME;

EID: 84899065881     PISSN: 17208424     EISSN: 18247288     Source Type: Journal    
DOI: 10.1186/1824-7288-40-34     Document Type: Review

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