A novel point mutation in the mitochondrial tRNA(Trp) gene produces late-onset encephalomyopathy, plus additional features

Journal of the Neurological Sciences

Volumn 297, Issue 1-2, 2010, Pages 105-108

  Malfatti, Edoardo ^a   Cardaioli, Elena ^a   Battisti, Carla ^a   Da Pozzo, Paola ^a   Malandrini, Alessandro ^a   Rufa, Alessandra ^a   Rocchi, Raffaele ^a   Federico, Antonio ^a  

^a UNIVERSITY OF SIENA   (Italy)

Author keywords

Mitochondrial diseases; mtDNA; Transfer RNATrp

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DIABETES MELLITUS; DNA DETERMINATION; ELECTROENCEPHALOGRAM; ENCEPHALOMYOPATHY; EYE EXAMINATION; FEMALE; HUMAN; HYPOTHYROIDISM; MITOCHONDRIAL ENCEPHALOMYOPATHY; MUSCLE BIOPSY; MYOCLONUS EPILEPSY; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESPIRATORY CHAIN;

ELECTRON TRANSPORT COMPLEX IV; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; MITOCHONDRIA; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; POINT MUTATION; RNA, TRANSFER, TRP;

EID: 77956685274     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2010.06.009     Document Type: Article

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