Mitochondrial complex I-linked disease.
Rodenburg RJ.
Biochim Biophys Acta. 2016 Jul;1857(7):938-45. doi: 10.1016/j.bbabio.2016.02.012. Epub 2016 Feb 22.
Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.
Tang X, Xu W, Song X, Ye H, Ren X, Yang Y, Zhang H, Wu S, Lan X.
Genes Genomics. 2022 Jun;44(6):691-698. doi: 10.1007/s13258-022-01260-x. Epub 2022 Apr 28.
De novo frameshift variant in MT-ND1 causes a mitochondrial complex I deficiency associated with MELAS syndrome.
Lou X, Zhou Y, Liu Z, Xie Y, Zhang L, Zhao S, Gong S, Zhuo X, Wang J, Dai L, Ren X, Tong X, Jiang L, Fang H, Fang F, Lyu J.
Gene. 2023 Apr 15;860:147229. doi: 10.1016/j.gene.2023.147229. Epub 2023 Jan 27.
Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids.
Dunbar DR, Moonie PA, Zeviani M, Holt IJ.
Hum Mol Genet. 1996 Jan;5(1):123-29. doi: 10.1093/hmg/5.1.123.
Mitochondrial myopathy (complex I deficiency) associated with chronic intestinal pseudo-obstruction.
Wedel T, Tafazzoli K, Söllner S, Krammer HJ, Aring C, Holschneider AM.
Eur J Pediatr Surg. 2003 Jun;13(3):201-5. doi: 10.1055/s-2003-41263.
Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders.
Palin EJ, Paetau A, Suomalainen A.
Brain. 2013 Aug;136(Pt 8):2379-92. doi: 10.1093/brain/awt160. Epub 2013 Jun 27.
Myopathy reversion in mice after restauration of mitochondrial complex I.
Pereira CV, Peralta S, Arguello T, Bacman SR, Diaz F, Moraes CT.
EMBO Mol Med. 2020 Feb 7;12(2):e10674. doi: 10.15252/emmm.201910674. Epub 2020 Jan 9.
Mouse models of mitochondrial complex I dysfunction.
Irwin MH, Parameshwaran K, Pinkert CA.
Int J Biochem Cell Biol. 2013 Jan;45(1):34-40. doi: 10.1016/j.biocel.2012.08.009. Epub 2012 Aug 10.
Mice lacking TR4 nuclear receptor develop mitochondrial myopathy with deficiency in complex I.
Liu S, Lee YF, Chou S, Uno H, Li G, Brookes P, Massett MP, Wu Q, Chen LM, Chang C.
Mol Endocrinol. 2011 Aug;25(8):1301-10. doi: 10.1210/me.2010-0455. Epub 2011 May 26.
A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency.
Pula S, Urankar K, Norman A, Pierre G, Langton-Hewer S, Selby V, Mason F, Vijayakumar K, McFarland R, Taylor RW, Majumdar A.
Neuromuscul Disord. 2020 Feb;30(2):159-164. doi: 10.1016/j.nmd.2019.11.014. Epub 2019 Dec 1.
