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Brain

Volumn 130, Issue 4, 2007, Pages

  Bindoff, Laurence ^a  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ATAXIA; DISEASE TRANSMISSION; GENETIC SCREENING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LETTER; MUTATION; OPHTHALMOPLEGIA; PATHOGENICITY; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; PTOSIS;

EID: 34548443293     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awm010     Document Type: Letter

References (9)

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4. Horvath R, Hudson G, Ferrari G, Futterer N, Ahola S, Lamantea E, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 2006; 129: 1674-84.
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7. Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Winterthun S, et al. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 2006; 129: 1637-9.
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9. Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, et al. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase {gamma} mutations. Neurology 2005; 64: 1204-8.