Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation

Biochemical and Biophysical Research Communications

Volumn 458, Issue 3, 2015, Pages 601-604

  Brisca, Giacomo ^a   Fiorillo, Chiara ^b   Nesti, Claudia ^b   Trucco, Federica ^c   Derchi, Maria ^d   Andaloro, Antonio ^a   Assereto, Stefania ^c   Morcaldi, Guido ^a   Pedemonte, Marina ^c   Minetti, Carlo ^c   Santorelli, Filippo M ^b   Bruno, Claudio ^a  

^a G GASLINI INSTITUTE   (Italy)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^c Neurology Unit   (Italy)

^d Pediatric Cardiology Unit   (Italy)

Author keywords

Cardiomyopathy; m.3271T>C mutation; Mitochondrial tRNA

Indexed keywords

CYTOCHROME C OXIDASE; LACTIC ACID; MITOCHONDRIAL DNA; SUCCINATE DEHYDROGENASE; TRANSFER RNA; LEUCINE TRANSFER RNA;

ADOLESCENT; ADULT; ARTICLE; AUDIOMETRY; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; FAILURE TO THRIVE; FATIGUE; FEMALE; GLUCOSE BLOOD LEVEL; HEART EJECTION FRACTION; HEART LEFT VENTRICLE HYPERTROPHY; HEART LEFT VENTRICLE MASS; HEART VENTRICLE SEPTUM; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; MALE; MELAS SYNDROME; METABOLIC ACIDOSIS; MUSCLE BIOPSY; MYALGIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OXIDATIVE PHOSPHORYLATION; PERCEPTION DEAFNESS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SINUS RHYTHM; GENETICS; MIDDLE AGED; PATHOLOGY; PRESCHOOL CHILD;

ADOLESCENT; CARDIOMYOPATHY, HYPERTROPHIC; CHILD, PRESCHOOL; FEMALE; HUMANS; MALE; MELAS SYNDROME; MIDDLE AGED; POINT MUTATION; RNA, TRANSFER, LEU;

EID: 84924029112     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2015.01.157     Document Type: Article

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