Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations

Human Mutation

Volumn 15, Issue 6, 2000, Pages 522-532

  Rubio Gozalbo, M E ^a   Dijkman, K P ^a   Van Den Heuvel, L P ^a   Sengers, R C A ^a   Wendel, U ^b   Smeitink, J A M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

Genotype; Mitochondriocytopathies; mtDNA mutations; Nuclear mutations; Phenotype

Indexed keywords

ADENOSINE TRIPHOSPHATE; CELL NUCLEUS DNA; CYTOCHROME C OXIDASE; LACTIC ACID; MITOCHONDRIAL DNA; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; ENZYME DEFICIENCY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC COUNSELING; HUMAN; INFANT; LEIGH DISEASE; MALE; ONSET AGE; OXIDATIVE PHOSPHORYLATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY CHAIN; SIBLING;

ADOLESCENT; ADULT; AGE OF ONSET; CELL NUCLEUS; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DNA; DNA, MITOCHONDRIAL; FAMILY HEALTH; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; NUCLEAR FAMILY; OXIDATIVE PHOSPHORYLATION; PHENOTYPE;

EID: 0034120154     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200006)15:6<522::AID-HUMU4>3.0.CO;2-Y     Document Type: Article

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