Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/jhg200877.pdf
Reference39 articles.
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2. Aure K, Ogier de Baulny H, Laforet P, Jardel C, Eymard B, Lombes A (2007) Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression? Brain 130:1516–1524
3. Bender A, Krishnan KJ, Morris CM, Taylor GA, Reeve AK, Perry RH, Hersheson JS, Betts J, Klopstock T, Taylor RW, Turnbull DM (2006) High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet 38:515–517
4. Campos Y, Martin MA, Caballero C, Rubio JC, de la Cruz F, Tunon T, Arenas J (2000) Single large-scale mitochondrial DNA deletion in a patient with encephalopathy, cardiomyopathy, and prominent intestinal pseudo-obstruction. Neruomuscul Disord 10:56–58
5. Deugol F, Nelson I, Amselem S, Romero N, Obermaier-Kusser B, Ponsot G, Marsac C, Lestienne P (1991) Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies. Nucleic Acids Res 19:493–496
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