000 | 02601na a2200337 4500 | ||
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_c6603 _d6603 |
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003 | PC6603 | ||
005 | 20210625062804.0 | ||
008 | 130622s2013 xxx||||| |||| 00| 0 eng d | ||
040 | _cH12O | ||
041 | _aeng | ||
100 |
_aGarcía-Consuegra Galiana, Inés _91867 _eInstituto de Investigación i+12 |
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100 |
_aGarcía Silva, María Teresa _9657 _eUnidad de Enfermedades Metabólicas y Mitocondriales |
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100 |
_9862 _aGaresse, Rafael _eInstituto de Investigación i+12 |
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100 |
_9345 _aMartín Casanueva, Miguel Ángel _eBioquímica Clínica |
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245 | 0 | 0 |
_aCardiac dysfunction in mitochondrial disease. _h[artículo] |
260 |
_bCirculation journal: official journal of the Japanese Circulation Society, _c2013 |
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500 | _aFormato Vancouver: Villar P, Bretón B, García-Pavía P, González-Páramos C, Blázquez A, Gómez-Bueno M et al. Cardiac dysfunction in mitochondrial disease. Clinical and molecular features. Circ J. 2013;77(11):2799-806. | ||
501 | _aPMID: 23965802 | ||
504 | _aContiene 50 referencias | ||
520 | _aBackground: Mitochondrial disorders (MD) are multisystem diseases that arise as a result of dysfunction of the oxidative phosphorylation system. The predominance of neuromuscular manifestations in MD could mask the presence of other clinical phenotypes such as cardiac dysfunction. Reported here is a retrospective study, the main objective of which was to characterize the clinical and molecular features of a cohort of patients with cardiomyopathy and MD. Methods and Results: Hospital charts of 2,520 patients, evaluated for presumed MD were reviewed. The clinical criterion for inclusion in this study was the presence of a cardiac disturbance accompanied by a mitochondrial dysfunction. Only 71 patients met this criterion. The mitochondrial genome (mtDNA) could be sequenced only in 45 and the pathogenicity of 2 of the found changes was investigated using transmitochondrial cybrids. Three nucleotide changes in mtDNA that may be relevant and 3 with confirmed pathogenicity were identified but no mutations were found in the 13 nuclear genes analyzed. Conclusions: The mtDNA should be sequenced in patients with cardiac dysfunction accompanied by symptoms suggestive of MD; databases should be carefully and periodically screened to discard mitochondrial variants that could be associated with MD; functional assays are necessary to classify mitochondrial variants as pathogenic or polymorphic; and additional efforts must be made in order to identify nuclear genes that can explain some as yet uncharacterized molecular features of mitochondrial cardiomyopathy. | ||
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_9446 _aServicio de Pediatría-Neonatología |
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710 |
_9625 _aInstituto de Investigación imas12 |
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856 |
_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/6/pc6603.pdf _ySolicitar documento |
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_n0 _2ddc _cART |