Mutation in the mitochondrial tRNA Val causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes

Mitochondrion

Volumn 11, Issue 4, 2011, Pages 615-619

  Glatz, Catherine ^a   D'Aco, Kristin ^a   Smith, Sabrina ^a,b   Sondheimer, Neal ^a,b  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Heteroplasmy; MELAS; Mitochondrial disease; Mitochondrial DNA; Mitochondrial tRNA; Penetrance

Indexed keywords

GROWTH HORMONE; LACTIC ACID; MITOCHONDRIAL RNA; MITOCHONDRIAL TRNA FOR VALINE; UNCLASSIFIED DRUG; MITOCHONDRIAL DNA; OXYGEN; VALINE TRANSFER RNA;

ADOLESCENT; ARTICLE; BRAIN INFARCTION; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DELAYED PUBERTY; ELECTRON TRANSPORT; EPILEPTIC STATE; FEMALE; GENE DELETION; GENE MUTATION; GENETIC TRANSCRIPTION; HETEROPLASMY; HUMAN; HUMAN CELL; MELAS SYNDROME; MITOCHONDRIAL DNA DEPLETION; MYOPIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OXYGEN CONSUMPTION; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA SEQUENCE; SHORT STATURE; ALLELE; CELL CULTURE; CONFORMATION; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MITOCHONDRION; PATHOLOGY; POINT MUTATION;

ADOLESCENT; ALLELES; CELLS, CULTURED; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MELAS SYNDROME; MITOCHONDRIA; NUCLEIC ACID CONFORMATION; OXYGEN; POINT MUTATION; RNA, TRANSFER, VAL;

EID: 80053071555     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2011.04.003     Document Type: Article

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