Mitochondrial DNA G8363A mutation in the tRNALys gene: Clinical, biochemical and pathological study

Journal of the Neurological Sciences

Volumn 281, Issue 1-2, 2009, Pages 85-92

  Virgilio, Roberta ^a   Ronchi, Dario ^a   Bordoni, Andreina ^a   Fassone, Elisa ^a   Bonato, Sara ^b   Donadoni, Chiara ^a   Torgano, Giuseppe ^a,c   Moggio, Maurizio ^a   Corti, Stefania ^a   Bresolin, Nereo ^a,b   Comi, Giacomo P ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b SCIENTIFIC INSTITUTE   (Italy)

^c FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

Mitochondrial DNA tRNALys gene; Mitochondrial encephalomyopathy

Indexed keywords

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

ADULT; ARTICLE; ATAXIA; BLOOD SALVAGE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; CYTOCHROME C OXIDASE DEFICIENCY; DISEASE SEVERITY; DIZYGOTIC TWINS; ENZYME ACTIVITY; FEMALE; FIBROBLAST; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; MENTAL DEFICIENCY; MENTAL DISEASE; MERRF SYNDROME; MITOCHONDRIAL RESPIRATION; MOLECULAR GENETICS; MUSCLE BIOPSY; MYOBLAST; MYOCLONUS EPILEPSY; MYOPATHY; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY CHAIN;

ADULT; AGE OF ONSET; AGED; CELLS, CULTURED; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; FAMILY; FEMALE; FIBROBLASTS; HUMANS; MENTAL DISORDERS; MERRF SYNDROME; MIDDLE AGED; MITOCHONDRIAL DISEASES; MUSCLE, SKELETAL; MUTATION, MISSENSE; MYOBLASTS; PEDIGREE; PHENOTYPE; RNA, TRANSFER, LYS;

EID: 67349196844     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2009.01.025     Document Type: Article

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