Increased risk for cardiorespiratory failure associated with the A3302G mutation in the mitochondrial DNA encoded tRNA Leu(UUR) gene

Neuromuscular Disorders

Volumn 14, Issue 10, 2004, Pages 683-688

  Van Den Bosch, B J C ^a   De Coo, I F M ^b   Hendrickx, A T M ^a   Busch, H F M ^b   De Jong, G ^b   Scholte, H R ^b   Smeets, H J M ^a  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Cardiorespiratory failure; Mitochondrial encephalomyopathy; Mitochondrial tRNA; Point mutation; tRNA Leu(UUR)

Indexed keywords

CYTOCHROME C OXIDASE; LEUCINE; MITOCHONDRIAL DNA; MITOCHONDRIAL RNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); TRANSFER RNA; UBIQUINOL CYTOCHROME C REDUCTASE;

ADOLESCENT; ADULT; ARTICLE; CARDIOMYOPATHY; CARDIOPULMONARY INSUFFICIENCY; CASE REPORT; COMPLEX I DEFICIENCY; COMPLEX II DEFICIENCY; COMPLEX III DEFICIENCY; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; DNA SCREENING; ENVIRONMENTAL FACTOR; ENZYME ACTIVITY; EXERCISE; FEMALE; GENE MUTATION; HEART ARRHYTHMIA; HUMAN; HUMAN TISSUE; MALE; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; OXYGEN TENSION; PATHOGENESIS; PRIORITY JOURNAL; RISK ASSESSMENT; RNA PROCESSING;

ADULT; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; HEART ARREST; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL MYOPATHIES; MUSCLE, SKELETAL; MUTATION; RISK; RNA, TRANSFER, LEU;

EID: 4444240834     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2004.06.004     Document Type: Article

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