MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome

Biochimica et Biophysica Acta - Bioenergetics

Volumn 1787, Issue 5, 2009, Pages 484-490

  Naess, Karin ^a,b   Freyer, Christoph ^b,c   Bruhn, Helene ^b   Wibom, Rolf ^b   Malm, Gunilla ^a   Nennesmo, Inger ^b   von Döbeln, Ulrika ^b   Larsson, Nils Göran ^b,c  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b KAROLINSKA INSTITUTE   (Sweden)

^c MAX PLANCK INSTITUTE FOR BIOLOGY OF AGEING   (Germany)

Author keywords

Encephalopathy; Leigh syndrome; Mitochondrial disorder; Neurologic disease disorder; Paediatric disease

Indexed keywords

ADENOSINE TRIPHOSPHATE; CELL NUCLEUS DNA; DNA POLYMERASE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ARTICLE; CHILD; CLINICAL ARTICLE; COMPLEX I DEFICIENCY; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; DISEASE SEVERITY; ENZYME DEFICIENCY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; INBORN ERROR OF METABOLISM; INFANT; LEIGH DISEASE; MALE; NEWBORN; PATHOPHYSIOLOGY; PHENOTYPE; POLGA GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; SCHOOL CHILD; SEQUENCE ANALYSIS; SURF1 GENE; SWEDEN;

ADENOSINE TRIPHOSPHATE; CHILD; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; FEMALE; GLUTAMATE DEHYDROGENASE; HUMANS; INFANT; INFANT, NEWBORN; KINETICS; LEIGH DISEASE; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; PHENOTYPE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; SEVERITY OF ILLNESS INDEX; SURVIVAL ANALYSIS;

EID: 67349192238     PISSN: 00052728     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbabio.2008.11.014     Document Type: Article

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