MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation

Biochemical and Biophysical Research Communications

Volumn 402, Issue 2, 2010, Pages 443-447

  Connolly, Barbara S ^a   Feigenbaum, Annette S J ^b   Robinson, Brian H ^c   Dipchand, Anne I ^b   Simon, David K ^d   Tarnopolsky, Mark A ^a,e  

^a Hamilton Health Sciences ^*  (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^d HARVARD MEDICAL SCHOOL   (United States)

^e HAMILTON HEALTH SCIENCES   (Canada)

Author keywords

Leucine transfer RNA; MELAS syndrome; Mitochondrial myopathy; Ragged red fibres

Indexed keywords

ACICLOVIR; ADENINE; ALPHA TOCOPHEROL; ASCORBIC ACID; CARBOXYLIC ACID; CITRATE SYNTHASE; CREATINE; CREATINE KINASE; CYTOCHROME C OXIDASE; DICHLOROACETIC ACID; GUANINE; LACTIC ACID; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RIBOFLAVIN; SUCCINATE DEHYDROGENASE (UBIQUINONE); THIAMINE; THIOCTIC ACID; UBIDECARENONE;

ADOLESCENT; ADULT; AGNOSIA; AGRAPHIA; APHASIA; ARTICLE; AUTISM; AUTOPSY; BLINDNESS; BRAIN ATROPHY; BRAIN DISEASE; CAUCASIAN; CHILD; CLINICAL ARTICLE; CONFUSION; CONSTIPATION; CREATINE KINASE BLOOD LEVEL; DEMYELINATION; DNA SEQUENCE; DRUG DOSE TITRATION; DYSARTHRIA; DYSPNEA; ECHOCARDIOGRAPHY; ENZYME ACTIVITY; EPILEPTIC STATE; EXERCISE; EXERCISE INDUCED RHABDOMYOLYSIS; FATIGUE; FEMALE; GENETIC ASSOCIATION; GERSTMANN SYNDROME; HEADACHE; HEARING LOSS; HEART FAILURE; HEART MUSCLE BIOPSY; HEMIANOPIA; HEMIPARESIS; HETEROPLASMY; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; IMMUNOSUPPRESSIVE TREATMENT; LACTATE BLOOD LEVEL; MALE; MELAS SYNDROME; MIGRAINE; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYALGIA; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PARESTHESIA; PEDIGREE ANALYSIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PTOSIS; RHABDOMYOLYSIS; SEIZURE; SHORT STATURE; SOMNOLENCE; STROKE; TONGUE DISEASE; VASCULITIS;

ADULT; AUTISTIC DISORDER; CARDIOMYOPATHIES; CHILD; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; FEMALE; GENES, MITOCHONDRIAL; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MELAS SYNDROME; MIDDLE AGED; MUSCLE, SKELETAL; PEDIGREE; POINT MUTATION; RHABDOMYOLYSIS; YOUNG ADULT;

EID: 78149466584     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2010.10.060     Document Type: Article

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