A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia

Neuromuscular Disorders

Volumn 13, Issue 7-8, 2003, Pages 568-572

  Deschauer, Marcus ^a,b   Kiefer, Reinhard ^c   Blakely, Emma L ^a   He, Langping ^a   Zierz, Stephan ^b   Turnbull, Douglass M ^a   Taylor, Robert W ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^c UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

Autosomal dominant progressive external ophthalmoplegia; Mitochondrial disease; Multiple mitochondrial DNA deletions; Novel mutation; Twinkle gene

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; DIPLOPIA; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXTERNAL OPHTHALMOPLEGIA; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; MALE; MUSCLE BIOPSY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PTOSIS; SOUTHERN BLOTTING;

EID: 0043073110     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(03)00071-3     Document Type: Article

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