Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA-Reference-Cited by-同舟云学术

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA

Published:1995 Issue:5 Volume:242 Page:304-312
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Mariotti Caterina,Savarese Nicola,Suomalainen Anu,Rimoldi Marco,Comi Giacomo,Prelle Alessandro,Antozzi Carlo,Servidei Serena,Jarre Laura,DiDonato Stefano,Zeviani Massimo

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/content/pdf/10.1007/BF00878873.pdf

Reference26 articles.

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2. Chomyn A, Martinuzzi A, Yoneda M, Daga A, Hurko O, Johns D, Lai ST, Nonaka I, Angelini C, Attardi G (1992) MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. Proc Natl Acad Sci USA 89:4221?4225

3. Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati A, Garcia C, Martinuzzi A, Mosewich R, Servidei S, Zammarchi E, Bonilla E, De Vivo DC, Rowland LP, Schon AE, Di Mauro S (1992) MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol 31:391?398

4. Darley-Usmar VM, Rickwood D, Wilson MT (eds) (1987) Mitochondria, a practical approach. IRL Press, Oxford

5. Goto Y, Nonaka I, Horai S (1990) A mutation in the tRNALLeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348:651?653

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