Artigo Revisado por pares

The ND1 T3308C mutation may be a mtDNA polymorphism. Report of two Portuguese patients

1999; Springer Science+Business Media; Volume: 22; Issue: 1 Linguagem: Inglês

10.1023/a

ISSN

1573-2665

Autores

Laura Vilarinho, Rui Chorão, Maria Luı́s Cardoso, Hugo Rocha, Célia Nogueira, Filippo M. Santorelli,

Tópico(s)

RNA modifications and cancer

Resumo

Journal of Inherited Metabolic DiseaseVolume 22, Issue 1 p. 90-91 Article The ND1 T3308C mutation may be a mtDNA polymorphism. Report of two Portuguese patients L. Vilarinho, L. Vilarinho Department of Clinical Biology, Instituto de Genética Médica, Porto, PortugalSearch for more papers by this authorR. Chorão, R. Chorão Department of Neurology, Hospital Geral de S. António, Porto, PortugalSearch for more papers by this authorM. L. Cardoso, M. L. Cardoso Department of Clinical Biology, Instituto de Genética Médica, Porto, PortugalSearch for more papers by this authorH. Rocha, H. Rocha Department of Clinical Biology, Instituto de Genética Médica, Porto, PortugalSearch for more papers by this authorC. Nogueira, C. Nogueira Department of Clinical Biology, Instituto de Genética Médica, Porto, PortugalSearch for more papers by this authorF. M. Santorelli, F. M. Santorelli Laboratory of Molecular Neurobiology, Institute of Neurology 'C. Mondino', University of Pavia, Italy; and Department of Neurology, CPMC, Columbia University, New York, USASearch for more papers by this author L. Vilarinho, L. Vilarinho Department of Clinical Biology, Instituto de Genética Médica, Porto, PortugalSearch for more papers by this authorR. Chorão, R. Chorão Department of Neurology, Hospital Geral de S. António, Porto, PortugalSearch for more papers by this authorM. L. Cardoso, M. L. Cardoso Department of Clinical Biology, Instituto de Genética Médica, Porto, PortugalSearch for more papers by this authorH. Rocha, H. Rocha Department of Clinical Biology, Instituto de Genética Médica, Porto, PortugalSearch for more papers by this authorC. Nogueira, C. Nogueira Department of Clinical Biology, Instituto de Genética Médica, Porto, PortugalSearch for more papers by this authorF. M. Santorelli, F. M. Santorelli Laboratory of Molecular Neurobiology, Institute of Neurology 'C. Mondino', University of Pavia, Italy; and Department of Neurology, CPMC, Columbia University, New York, USASearch for more papers by this author First published: 01 February 1999 https://doi.org/10.1023/A:1005471904710Citations: 3AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1Campos Y, Martin MA, Rubio JC, Olmo MCG, Cabello A, Arenas J (1997) Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene. Biochem Biophys Res Commun, 238: 323–325. 2DiMauro S, Bonilla E, Rosenberg SN, Prusiner SB, DiMauro S, Barchi RL (1997) Mitochondrial encephalomyopathies. In: The Molecular and Genetic Basis of Neurological Disease, 2nd edn.. Boston, MA: Butterworth-Heinemann, 389–446. 3Sakuta R, Goto Y, Nonaka I, Horai S (1993) An A-to-G transition at nucleotide pair 11084 in the ND4 gene may be an mtDNA polymorphism. Am J Hum Genet, 53 (4): 964–965. Citing Literature Volume22, Issue1February 1999Pages 90-91 ReferencesRelatedInformation

Referência(s)