TWINKLE gene mutation: Report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review

European Journal of Neurology

Volumn 18, Issue 3, 2011, Pages 436-441

  Martin Negrier, M L ^a   Sole, G ^b   Jardel, C ^c   Vital, C ^a   Ferrer, X ^b   Vital, A ^a  

^a CNRS   (France)

^b BORDEAUX UNIVERSITY HOSPITAL   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Mitochondria; Myopathy; Neuropathy; Ophthalmoplegia; Twinkle gene

Indexed keywords

HELICASE; MITOCHONDRIAL DNA;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CODING; DNA FLANKING REGION; DYSARTHRIA; DYSPHAGIA; EXERCISE; EXON; FRANCE; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HUMAN; HUMAN CELL; INTRON; MALE; MUSCLE BIOPSY; MYOPATHY; NEUROPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOPLEGIA; PARKINSONISM; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESPIRATORY FAILURE; SOUTHERN BLOTTING; TWINKLE GENE; WEIGHT REDUCTION;

EID: 79951654552     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2010.03171.x     Document Type: Article

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