Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency-Reference-Cited by-同舟云学术

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency

Published:2018-07-05 Issue:11 Volume:26 Page:1582-1587
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Srivastava Anshika,Srivastava Kinshuk Raj,Hebbar Malavika,Galada Chelna,Kadavigrere Rajagopal,Su Fengyun,Cao Xuhong,Chinnaiyan Arul M.,Girisha Katta M.,Shukla Anju,Bielas Stephanie L.^ORCID

Funder

U.S. Department of Health & Human Services | NIH | Fogarty International Center

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0209-0.pdf

Reference25 articles.

1. Hoefs SJ, Skjeldal OH, Rodenburg RJ, et al. Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies. Mol Genet Metab. 2010;100:251–6.

2. Alston CL, Compton AG, Formosa LE, et al. Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype. Am J Hum Genet. 2016;99:217–27.

3. Benit P, Beugnot R, Chretien D, et al. Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. Hum Mutat. 2003;21:582–6.

4. Benit P, Slama A, Cartault F, et al. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. J Med Genet. 2004;41:14–7.

5. Kirby DM, Salemi R, Sugiana C, et al. NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. J Clin Invest. 2004;114:837–45.

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