A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure-Reference-Cited by-同舟云学术

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

Published:2001-07-30 Issue:1 Volume:29 Page:57-60
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

de Lonlay Pascale,Valnot Isabelle,Barrientos Antoni,Gorbatyuk Marina,Tzagoloff Alexander,Taanman Jan-Willem,Benayoun Emmanuel,Chrétien Dominique,Kadhom Noman,Lombès Anne,de Baulny Hélène Ogier,Niaudet Patrick,Munnich Arnold,Rustin Pierre,Rötig Agnès

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng706z.pdf

Reference25 articles.

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2. von Kleist-Retzow, J.C. et al. A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency. Am. J. Hum. Genet. 63, 428–435 (1998).

3. Dumoulin, R. et al. A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. Mol. Cell. Probes 10, 389–391 (1996).

4. Andreu, A.L. et al. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N. Engl. J. Med. 341, 1037–1044 (1999).

5. Valnot, I. et al. A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency. Hum. Genet. 104, 460–466 (1999).

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