000			01940na a2200265 4500
003			H12O
005			20180417112755.0
008			130622s2012 xxx||||| |||| 00| 0 eng d
040			_cH12O
041			_aeng
100			_9983 _aCabello Fernández, Ana _eAnatomía Patológica
100			_9657 _aGarcía Silva, María Teresa _eUnidad de Enfermedades Metabólicas y Mitocondriales
100			_91158 _aMartín Hernández, Elena _eUnidad de Enfermedades Metabólicas y Mitocondriales
245	0	0	_aClinical and cellular consequences of the mutation m.12300G>A in the mitochondrial tRNALeu(CUN) gene _h[artículo]
260			_bMitochondrion, _c2012
300			_a12(2):288-293.
500			_aFormato Vancouver: Martín Jiménez R, Martín Hernández E, Cabello A, García Silva MT, Arenas J, Campos Y. Clinical and cellular consequences of the mutation m.12300G>A in the mitochondrial tRNA(Leu(CUN)) gene. Mitochondrion. 2012;12(2):288-93.
501			_aPMID: 22094595
504			_aContiene 27 referencias
520			_aWe report, for the first time, a patient with an overlap MERRF-NARP syndrome who carries the mutation m.12300G>A in the mitochondrial tRNA(Leu(CUN)) gene. The mutation was heteroplamic and more abundant in her muscle and fibroblast than in blood from her oligosymptomatic mother. Single muscle fiber analysis revealed that the proportion of mutant mtDNA in ragged red fibers was higher than that in normal fibers. Combined defects of mitochondrial respiratory chain complexes were detected in muscle, fibroblasts and transmitochondrial hybrid cells. Significant reduction of total ATP and mitochondrial membrane potential and an increased production of reactive oxygen species were observed.
710			_9446 _aServicio de Pediatría-Neonatología
710			_9330 _aServicio de Anatomía Patológica
856			_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/9/pc9142.pdf _ySolicitar documento
942			_n0 _2ddc _cART
999			_c9142 _d9142