NDUFS6 related Leigh syndrome: a case report and review of the literature-Reference-Cited by-同舟云学术

NDUFS6 related Leigh syndrome: a case report and review of the literature

Published:2019-04-04 Issue:7 Volume:64 Page:637-645
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Rouzier Cécile,Chaussenot Annabelle,Fragaki Konstantina,Serre Valérie,Ait-El-Mkadem Samira,Richelme Christian,Paquis-Flucklinger Véronique,Bannwarth Sylvie

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-019-0594-4.pdf

Reference28 articles.

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3. Acin-Perez R, Enriquez JA. The function of the respiratory supercomplexes: the plasticity model. Biochim Biophys Acta. 2014;1837:444–50.

4. Acín-Pérez R, Fernández-Silva P, Peleato ML, Pérez-Martos A, Enriquez JA. Respiratory active mitochondrial supercomplexes. Mol Cell. 2008;32:529–39.

5. Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC, et al. Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum Mutat. 2000;15:123–34.

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