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Quoted phrase not found in phrase index: "Leigh syndrome due to mitochondrial complex V deficiency"
Page 1
Mitochondrial gene expression changes in normal and mitochondrial mutant cells after exposure to ionizing radiation.
Kulkarni R, Marples B, Balasubramaniam M, Thomas RA, Tucker JD. Kulkarni R, et al. Radiat Res. 2010 May;173(5):635-44. doi: 10.1667/RR1737.1. Radiat Res. 2010. PMID: 20426663
Leber's optic atrophy and Leigh's syndrome are diseases that are caused by point mutations in the mitochondrial genome and that have phenotypes associated with energy deprivation. ...This may be attributable to mitochondrial dysfunction from reductions …
Leber's optic atrophy and Leigh's syndrome are diseases that are caused by point mutations in the mitochondrial genome …
Analysis of the mitochondrial complex I-V enzyme activities of peripheral leukocytes in oxidative phosphorylation disorders.
Ma YY, Zhang XL, Wu TF, Liu YP, Wang Q, Zhang Y, Song JQ, Wang YJ, Yang YL. Ma YY, et al. J Child Neurol. 2011 Aug;26(8):974-9. doi: 10.1177/0883073811399905. Epub 2011 May 3. J Child Neurol. 2011. PMID: 21540367
Twenty (31.2%) patients had isolated complex defects, complex I deficiency (n = 2, 3.1%), complex II deficiency (n = 3, 4.7%), complex III deficiency (n = 5, 7.8%), complex IV deficiency (n = 5, 7.8%), and complex V deficiency (n = …
Twenty (31.2%) patients had isolated complex defects, complex I deficiency (n = 2, 3.1%), complex II deficiency (n = 3, 4.7%), …
Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association.
Henriques M, Diogo L, Garcia P, Pratas J, Simões M, Grazina M. Henriques M, et al. J Child Neurol. 2012 Aug;27(8):1059-61. doi: 10.1177/0883073811431015. Epub 2012 Jan 12. J Child Neurol. 2012. PMID: 22241703
After a short asymptomatic period, progressive neurologic symptoms, with normal ammonemia, persistent hyperlactacidemia, and typical lesions in brain computed tomography (CT) scan led to a diagnosis of Leigh syndrome. Mitochondrial respiratory chain comple …
After a short asymptomatic period, progressive neurologic symptoms, with normal ammonemia, persistent hyperlactacidemia, and typical lesions …
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.
Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J. Honzik T, et al. J Inherit Metab Dis. 2012 Sep;35(5):749-59. doi: 10.1007/s10545-011-9440-3. Epub 2012 Jan 10. J Inherit Metab Dis. 2012. PMID: 22231385
Prematurity, intrauterine growth retardation and hypotonia necessitating ventilatory support were present in one-third, cardiomyopathy in 40%, neonatal seizures in 16%, Leigh syndrome in 15%, and elevated lactate level in 87%. Hyperammonemia was observed in 22 out o …
Prematurity, intrauterine growth retardation and hypotonia necessitating ventilatory support were present in one-third, cardiomyopathy in 40 …
Evoked potentials in children with oxidative metabolic defects leading to Leigh syndrome.
Taylor MJ, Robinson BH. Taylor MJ, et al. Pediatr Neurol. 1992 Jan-Feb;8(1):25-9. doi: 10.1016/0887-8994(92)90048-4. Pediatr Neurol. 1992. PMID: 1313675
We studied evoked potentials in 15 children (age range: 2 wks to 4 yrs; mean: 10 mos) with metabolic disturbances that led to Leigh syndrome. These disturbances included deficiencies of pyruvate dehydrogenase (N = 5), complex 1 (N = 7), complex 4 or cytochrom …
We studied evoked potentials in 15 children (age range: 2 wks to 4 yrs; mean: 10 mos) with metabolic disturbances that led to Leigh …
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA, Morava E. Wortmann SB, et al. Brain. 2009 Jan;132(Pt 1):136-46. doi: 10.1093/brain/awn296. Epub 2008 Nov 16. Brain. 2009. PMID: 19015156
In the encephalomyopathic group with neurodegenerative symptoms and respiratory chain complex I deficiency, two of the children, presenting with mild Methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness, harboured SUCLA2 mutations. ...In the c …
In the encephalomyopathic group with neurodegenerative symptoms and respiratory chain complex I deficiency, two of the children, pres …
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.
Neeve VC, Pyle A, Boczonadi V, Gomez-Duran A, Griffin H, Santibanez-Koref M, Gaiser U, Bauer P, Tzschach A, Chinnery PF, Horvath R. Neeve VC, et al. Mitochondrion. 2013 Nov;13(6):743-8. doi: 10.1016/j.mito.2013.03.002. Epub 2013 Mar 14. Mitochondrion. 2013. PMID: 23499752 Free PMC article.
Exome sequencing identified compound heterozygous mutations in the recently discovered mitochondrial methionyl-tRNA formyltransferase (MTFMT) gene in two sisters with mild Leigh syndrome and combined respiratory chain deficiency. ...Blue native polyacr …
Exome sequencing identified compound heterozygous mutations in the recently discovered mitochondrial methionyl-tRNA formyltransferase …
Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.
Morava E, Rodenburg RJ, Hol F, de Vries M, Janssen A, van den Heuvel L, Nijtmans L, Smeitink J. Morava E, et al. Am J Med Genet A. 2006 Apr 15;140(8):863-8. doi: 10.1002/ajmg.a.31194. Am J Med Genet A. 2006. PMID: 16532470
In 9 out of 11 patients a decreased ATP production was detected, and complex V activity was deficient in all children. The activities of the respiratory enzyme complexes II and IV were normal, whereas an associated combined complex I and III deficiency …
In 9 out of 11 patients a decreased ATP production was detected, and complex V activity was deficient in all children. …