The V368I mutation in twinkle does not segregate with AdPEO [1]

Annals of Neurology

Volumn 53, Issue 2, 2003, Pages 278-

  Arenas, Joaquín ^a   Briem, Egill ^b   Dahl, Henrik ^c   Hutchison, Wendy ^c   Lewis, Sharon ^c   Martin, Miguel A ^a   Spelbrink, Hans ^d   Tiranti, Valeria ^b   Jacobs, Howy ^d   Zeviani, Massimo ^b  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b National Neurological Institute   (Italy)

^c MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^d TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL FEATURE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA POLYMORPHISM; GENE MUTATION; HUMAN; LETTER; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NETHERLANDS; PRIORITY JOURNAL;

EID: 0037310575     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10430     Document Type: Letter

References (5)

1. Zeviani M, Servidei S, Gellera C, et al. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989;339:309-311.
2. Kaukonen J, Juselius JK, Tiranti V, et al. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 2000;289:782-785.
3. Spelbrink JN, Li FY, Tiranti V, et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 2001;28:223-231.
4. Van Goethem G, Dermaut B, Lofgren A, et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001;28:211-212.
5. Lamantea E, Tiranti V, Bordoni A, et al. Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive Progressive External Ophthalmoplegia. Ann Neurol 2002;52:211-219.