Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Molecular Medicine
Reference27 articles.
1. Alban C, Fatale E, Joulani A, Ilin P, Saada A. 2017. The Relationship between Mitochondrial Respiratory Chain Activities in Muscle and Metabolites in Plasma and Urine: A Retrospective Study. J. Clin. Med. 6, 31. Doi: 10.3390/jcm6030031.
2. Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, et al. 2016. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. Am. J. Hum. Genet. 99:217–27. Doi: 10.1016/j.ajhg.2016.05.021.
3. Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency;Alston;Am. J. Human Genet.,2018
4. NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect;Baertling;Eur. J. Hum. Genet.,2017
5. NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect: BAERTLING et al;Baertling;Clin. Genet.,2018
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