Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy-Reference-Cited by-同舟云学术

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Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy

Published:2014-04-30 Issue:2 Volume:23 Page:159-164
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Abdulhag Ulla Najwa,Soiferman Devorah,Schueler-Furman Ora,Miller Chaya,Shaag Avraham,Elpeleg Orly,Edvardson Simon,Saada Ann

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201485.pdf

Reference22 articles.

1. Di Donato S : Multisystem manifestations of mitochondrial disorders. J Neurol 2009; 256: 693–710.

2. DiMauro S, Tanji K, Schon EA : The many clinical faces of cytochrome c oxidase deficiency. Adv Exp Med Biol 2012; 748: 341–357.

3. Soto IC, Fontanesi F, Liu J, Barrientos A : Biogenesis and assembly of eukaryotic cytochrome c oxidase catalytic core. Biochim Biophys Acta 2012; 1817: 883–897.

4. Shteyer E, Saada A, Shaag A et al: Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene. Am J Hum Genet 2009; 84: 412–417.

5. Indrieri A, van Rahden VA, Tiranti V et al: Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. Am J Hum Genet 2012; 91: 942–949.

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