Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay-Reference-Cited by-同舟云学术

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

Published:2006-04-26 Issue:8 Volume:14 Page:917-922
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Naïmi Mourad,Bannwarth Sylvie,Procaccio Vincent,Pouget Jean,Desnuelle Claude,Pellissier Jean-François,Rötig Agnes,Munnich Arnold,Calvas Patrick,Richelme Christian,Jonveaux Philippe,Castelnovo Giovanni,Simon Melvin,Clanet Michel,Wallace Douglas,Paquis-Flucklinger Véronique

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201627.pdf

Reference15 articles.

1. Spelbrink JN, Li FY, Tiranti V et al: Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 2001; 28: 223–231.

2. Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C : Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001; 28: 211–212.

3. Kaukonen J, Juselius JK, Tiranti V et al: Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 2000; 289: 782–785.

4. Lamantea E, Tiranti V, Bordoni A et al: Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol 2002; 52: 211–219.

5. Van Goethem G, Martin JJ, Dermaut B et al: Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord 2003; 13: 133–142.

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