Partial tandem duplication of mtDNA-tRNA Phe impairs mtDNA translation in late-onset mitochondrial myopathy

Neuromuscular Disorders

Volumn 22, Issue 1, 2012, Pages 50-55

  Arzuffi, Paola ^a   Lamperti, Costanza ^a   Fernandez Vizarra, Erika ^b   Tonin, Paola ^c   Morandi, Lucia ^a   Zeviani, Massimo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^c UNIVERSITY OF VERONA   (Italy)

Author keywords

Cytochrome c oxidase; Mitochondrial myopathy; MtDNA; MtDNA mutation; MtDNA translation; Oxidative phosphorylation

Indexed keywords

CREATINE KINASE; MITOCHONDRIAL DNA; MITOCHONDRIAL RNA; PHENYLALANINE; TRANSFER RNA;

AGED; ARTICLE; CASE REPORT; CREATINE KINASE BLOOD LEVEL; DNA MODIFICATION; DNA SEQUENCE; DNA TRANSCRIPTION; ELECTROMYOGRAPHY; FEMALE; GENE DUPLICATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MITOCHONDRIAL MYOPATHY; MUSCLE ATROPHY; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; OXYGEN CONSUMPTION; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN SYNTHESIS REGULATION; RNA TRANSCRIPTION;

AGED, 80 AND OVER; BIOPSY; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTROMYOGRAPHY; ELECTRON TRANSPORT COMPLEX IV; FEMALE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIA; MITOCHONDRIAL MYOPATHIES; MITOCHONDRIAL PROTEINS; MUSCLE, SKELETAL; PROTEIN BIOSYNTHESIS; RNA, TRANSFER, PHE;

EID: 84855989472     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.07.009     Document Type: Article

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