A new mtDNA-tRNAGlu mutation (14728T > C) presenting a late-onset mitochondrial encephalomyopathy

Mitochondrion

Volumn 7, Issue 6, 2007, Pages 396-398

  Nogueira, Célia ^a   Nunes, João ^b   Evangelista, Teresinha ^c   Fattori, Fabiana ^d   Tessa, Alessandra ^d   Pereira, Cristina ^a   Santorelli, Filippo M ^d   Vilarinho, Laura ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b INSTITUTO PORTUGUÊS DE ONCOLOGIA DE LISBOA FRANCISCO GENTIL   (Portugal)

^c Neuropathology Unit   (Portugal)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Ataxia; Late onset myopathy; mtDNA

Indexed keywords

DNA; GLUTAMINE; MITOCHONDRIAL DNA; TRANSFER RNA;

ADULT; ARTICLE; ATAXIA; BALANCE DISORDER; BLOOD ANALYSIS; CASE REPORT; DIZZINESS; DYSARTHRIA; DYSMETRIA; ELECTROMYOGRAPHY; FEMALE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; LIMB WEAKNESS; MITOCHONDRIAL ENCEPHALOMYOPATHY; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; NEUROMUSCULAR DISEASE; PATHOGENESIS; PERCEPTION DEAFNESS; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKELETAL MUSCLE; SOUTHERN BLOTTING; VISUAL IMPAIRMENT;

DNA, MITOCHONDRIAL; FEMALE; HUMANS; MIDDLE AGED; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; RNA, TRANSFER, GLU;

EID: 36148956601     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2007.08.002     Document Type: Article

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