Clinical spectrum and diagnosis of mitochondrial disorders

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 106, Issue 1, 2001, Pages 4-17

  Dahl, H H M ^a   Thorburn, D R ^b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b NONE

Author keywords

Clinical presentation; Mitochondrial disease; Mitochondrial DNA; Nuclear DNA; Polarography; Spectrophotometry

Indexed keywords

ADENOSINE TRIPHOSPHATE; MITOCHONDRIAL DNA;

ARTICLE; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ASSAY; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; OXIDATIVE PHOSPHORYLATION; PHENOTYPE; POLAROGRAPHY; PRIORITY JOURNAL; RESPIRATORY CHAIN;

ADULT; CELL NUCLEUS; CHILD; DNA; DNA, MITOCHONDRIAL; HUMANS; MAGNETIC RESONANCE SPECTROSCOPY; MITOCHONDRIAL DISEASES; MODELS, BIOLOGICAL; MUTATION; OXIDATION-REDUCTION; OXYGEN; PHOSPHORYLATION; SYNDROME;

EID: 0034951326     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1391     Document Type: Article

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