Mutations causing mitochondrial disease: What is new and what challenges remain?

Science

Volumn 349, Issue 6255, 2015, Pages 1494-1499

  Lightowlers, Robert N ^a   Taylor, Robert W ^a   Turnbull, Doug M ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; RIBOFLAVIN; UBIQUINONE;

DISABILITY; DISEASE INCIDENCE; DISEASE TRANSMISSION; DISEASE TREATMENT; GENOMICS; HEALTH SERVICES; LITERATURE REVIEW; MITOCHONDRION; MUTATION; SYMPTOM;

AUTOSOMAL RECESSIVE DISORDER; BIOGENESIS; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA REPLICATION; GENE MUTATION; GENE PRODUCT; GENE REARRANGEMENT; GENETIC DISORDER; GENETIC HETEROGENEITY; GENOTYPE; HETEROPLASMY; HUMAN; METABOLIC STRESS; MITOCHONDRIAL GENOME; NEXT GENERATION SEQUENCING; NONHUMAN; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; REVIEW; SYNTHESIS; TISSUE SPECIFICITY; CELL NUCLEUS; GENETICS; METABOLISM; MITOCHONDRIAL DISEASES; MITOCHONDRION; MUTATION; PREVALENCE;

CELL NUCLEUS; DNA, MITOCHONDRIAL; HUMANS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION; OXIDATIVE PHOSPHORYLATION; PREVALENCE;

EID: 84942287874     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.aac7516     Document Type: Review

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