Unsolved issues related to human mitochondrial diseases

Biochimie

Volumn 100, Issue 1, 2014, Pages 171-176

  Lombès, Anne ^a,b,c   Auré, Karine ^a,d,e   Bellanné Chantelot, Christine ^c   Gilleron, Mylène ^a,c   Jardel, Claude ^a,c  

^a INSTITUT COCHIN   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c Centre de Génétique Moléculaire et Chromosomique   (France)

^d HÔPITAL AMBROISE PARÉ   (France)

^e LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

Author keywords

Heteroplasmy; Human diseases; Mitochondrial DNA; Oxidative phosphorylation; Tissue specificity

Indexed keywords

CELL NUCLEUS DNA; MITOCHONDRIAL DNA;

DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; FALSE NEGATIVE RESULT; GENE MUTATION; GENETIC COUNSELING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROPLASMY; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MELAS SYNDROME; MERRF SYNDROME; MITOCHONDRIAL DNA REPLICATION; NONHUMAN; OXIDATIVE PHOSPHORYLATION; POINT MUTATION; PRENATAL DIAGNOSIS; PROTEIN EXPRESSION; REVIEW; TARGET ORGAN; TISSUE DISTRIBUTION;

ANIMALIA;

HETEROPLASMY; HUMAN DISEASES; MITOCHONDRIAL DNA; OXIDATIVE PHOSPHORYLATION; TISSUE SPECIFICITY;

ANIMALS; CHIMERISM; DNA, MITOCHONDRIAL; GENE EXPRESSION REGULATION; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; INHERITANCE PATTERNS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MITOSIS; MUTATION; ORGAN SPECIFICITY; PHENOTYPE;

EID: 84897036448     PISSN: 03009084     EISSN: 61831638     Source Type: Journal    
DOI: 10.1016/j.biochi.2013.08.012     Document Type: Review

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