Recent advances in the genetics of mitochondrial encephalopathies

Current Neurology and Neuroscience Reports

Volumn 10, Issue 4, 2010, Pages 277-285

  Tucker, Elena J ^a,b   Compton, Alison G ^a   Thorburn, David R ^a,b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Electron transport chain; Encephalopathy; High throughput sequencing; Mitochondrial disease; Next generation sequencing; Oxidative phosphorylation

Indexed keywords

CELL NUCLEUS DNA; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; PROTEOME; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE; MITOCHONDRIAL PROTEIN;

BARTTER SYNDROME; COMPLEX I DEFICIENCY; COMPLEX II DEFICIENCY; COMPLEX III DEFICIENCY; CYTOCHROME C OXIDASE DEFICIENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; LEIGH DISEASE; LINKAGE ANALYSIS; MITOCHONDRIAL ENCEPHALOPATHY; NONHUMAN; OXIDATIVE PHOSPHORYLATION; PARAGANGLIOMA; PATHOGENESIS; REVIEW; GENETICS; GENOTYPE; INBORN ERROR OF METABOLISM; MITOCHONDRIAL ENCEPHALOMYOPATHY; MITOCHONDRIAL GENE; MUTATION; PHENOTYPE;

GENES, MITOCHONDRIAL; GENOTYPE; HUMANS; METABOLISM, INBORN ERRORS; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MITOCHONDRIAL PROTEINS; MUTATION; OXIDATIVE PHOSPHORYLATION; PHENOTYPE;

EID: 77955883759     PISSN: 15284042     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11910-010-0112-8     Document Type: Review

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