Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

Neurology

Volumn 60, Issue 8, 2003, Pages 1354-1356

  Agostino, A ^a   Valletta, L ^a   Chinnery, P F ^b   Ferrari, G ^a   Carrara, F ^a   Taylor, R W ^b   Schaefer, A M ^b   Turnbull, D M ^b   Tiranti, V ^a   Zeviani, Massimo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; AMINO ACID SUBSTITUTION; ANT1 GENE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA EXTRACTION; DNA SCREENING; EXTERNAL OPHTHALMOPLEGIA; FEMALE; GENE; GENE DELETION; GENE MUTATION; HUMAN; INHERITANCE; MALE; NUCLEOTIDE SEQUENCE; POLG1 GENE; PRIORITY JOURNAL; TWINKLE GENE;

EID: 0037461342     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000056088.09408.3C     Document Type: Article

References (10)

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9. 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.
10. 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.