Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings-Reference-Cited by-同舟云学术

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

Published:2012-05-05 Issue:1 Volume:36 Page:55-62
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Haack Tobias B.,Rolinski Boris,Haberberger Birgit,Zimmermann Franz,Schum Jessica,Strecker Valentina,Graf Elisabeth,Athing Uwe,Hoppen Thomas,Wittig Ilka,Sperl Wolfgang,Freisinger Peter,Mayr Johannes A.,Strom Tim M.,Meitinger Thomas,Prokisch Holger

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-012-9489-7

Reference20 articles.

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2. Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ et al (2012) Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med 4(118):118ra10

3. Cameron JM, Janer A, Levandovskiy V, Mackay N, Rouault TA, Tong WH et al (2011a) Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. Am J Hum Genet 89(4):486–495

4. Cameron JM, Levandovskiy V, Mackay N, Ackerley C, Chitayat D, Raiman J et al (2011b) Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization. Mitochondrion 11(1):191–199

5. Danhauser K, Iuso A, Haack TB, Freisinger P, Brockmann K, Mayr JA et al (2011) Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency. Mol Genet Metab 103(2):161–166

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