000130564 001__ 130564
000130564 005__ 20240126184244.0
000130564 0247_ $$2doi$$a10.1016/j.mito.2016.04.001
000130564 0248_ $$2sideral$$a94713
000130564 037__ $$aART-2016-94713
000130564 041__ $$aeng
000130564 100__ $$aOrtigoza-Escobar,J.
000130564 245__ $$aNdufs4 related Leigh syndrome: A case report and review of the literature
000130564 260__ $$c2016
000130564 5203_ $$aThe genetic causes of Leigh syndrome are heterogeneous, with a poor correlation between the phenotype and genotype. Here, we present a patient with an NDUFS4 mutation to expand the clinical and biochemical spectrum of the disease. A combined defect in the CoQ, PDH and RCC activities in our patient was due to an inappropriate assembly of the RCC complex I (CI), which was confirmed using Blue-Native polyacrylamide gel electrophoresis (BN-PAGE) analysis. Targeted exome sequencing analysis allowed for the genetic diagnosis of this patient. We reviewed 198 patients with 24 different genetic defects causing RCC I deficiency and compared them to 22 NDUFS4 patients. We concluded that NDUFS4-related Leigh syndrome is invariably linked to an early onset severe phenotype that results in early death. Some data, including the clinical phenotype, neuroimaging and biochemical findings, can guide the genetic study in patients with RCC I deficiency.
000130564 540__ $$9info:eu-repo/semantics/openAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/
000130564 590__ $$a3.704$$b2016
000130564 591__ $$aGENETICS & HEREDITY$$b51 / 165 = 0.309$$c2016$$dQ2$$eT1
000130564 591__ $$aCELL BIOLOGY$$b82 / 188 = 0.436$$c2016$$dQ2$$eT2
000130564 592__ $$a1.852$$b2016
000130564 593__ $$aMolecular Medicine$$c2016$$dQ1
000130564 593__ $$aCell Biology$$c2016$$dQ2
000130564 593__ $$aMolecular Biology$$c2016$$dQ2
000130564 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000130564 700__ $$aOyarzabal,A.
000130564 700__ $$aMontero,R.
000130564 700__ $$aArtuch,R.
000130564 700__ $$aJou,C.
000130564 700__ $$aJiménez,C.
000130564 700__ $$aGort,L.
000130564 700__ $$aBriones,P.
000130564 700__ $$aMuchart,J.
000130564 700__ $$0(orcid)0000-0002-3217-1424$$aLópez-Gallardo,E.$$uUniversidad de Zaragoza
000130564 700__ $$aEmperador,S.
000130564 700__ $$0(orcid)0000-0002-0269-7337$$aRuiz Pesini,E.$$uUniversidad de Zaragoza
000130564 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya,J.$$uUniversidad de Zaragoza
000130564 700__ $$aPérez,B.
000130564 700__ $$aRodríguez-Pombo,P.
000130564 700__ $$aPérez-Dueñas,B.
000130564 7102_ $$11003$$2443$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Histología
000130564 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000130564 773__ $$g28 (2016), 73-78$$pMitochondrion$$tMITOCHONDRION$$x1567-7249
000130564 8564_ $$s385467$$uhttps://zaguan.unizar.es/record/130564/files/texto_completo.pdf$$yVersión publicada
000130564 8564_ $$s2842428$$uhttps://zaguan.unizar.es/record/130564/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000130564 909CO $$ooai:zaguan.unizar.es:130564$$particulos$$pdriver
000130564 951__ $$a2024-01-26-18:10:14
000130564 980__ $$aARTICLE