The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine-Reference-Cited by-同舟云学术

The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine

Published:2013-06-13 Issue:8 Volume:58 Page:526-530
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Jaberi Elham,Chitsazian Fereshteh,Ali Shahidi Gholam,Rohani Mohammad,Sina Farzad,Safari Iman,Malakouti Nejad Maryam,Houshmand Masoud,Klotzle Brandy,Elahi Elahe

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg201345.pdf

Reference26 articles.

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3. Coenen, M. J., Antonicka, H., Ugalde, C., Sasarman, F., Rossi, R., Heister, J. G. et al. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N. Engl. J. Med. 351, 2080–2086 (2004).

4. Valente, L., Tiranti, V., Marsano, R. M., Malfatti, E., Fernandez-Vizarra, E., Donnini, C. et al. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am. J. Hum. Genet. 80, 44–58 (2007).

5. Davis, R. L. & Sue, C. M. The genetics of mitochondrial disease. Semin Neurol. 31, 519–530 (2011).

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