Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

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dc.contributor.authorSpiegel, R.
dc.contributor.authorSaada, A.
dc.contributor.authorFlannery, P.
dc.contributor.authorBurte, F.
dc.contributor.authorSoiferman, D.
dc.contributor.authorKhayat, M.
dc.contributor.authorEisner Sagüés, Verónica Raquel
dc.contributor.authorVladovski, E.
dc.contributor.authorTaylor, R.
dc.contributor.authorBindoff, L.
dc.contributor.authorShaag, A.
dc.contributor.authorMandel, H.
dc.contributor.authorSchuler, O.
dc.contributor.authorShalev, S.
dc.contributor.authorElpeleg, O.
dc.contributor.authorYu, P.
dc.date.accessioned2020-07-11T02:09:00Z
dc.date.available2020-07-11T02:09:00Z
dc.date.issued2016
dc.format.extent5 páginas
dc.fuente.origenConveris
dc.identifier.doi10.1136/jmedgenet-2015-103361
dc.identifier.issn0022-2593
dc.identifier.issn1468-6244
dc.identifier.urihttps://doi.org/10.1136/jmedgenet-2015-103361
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/31799
dc.identifier.wosidWOS:000368502700007
dc.issue.numeroNo. 2
dc.language.isoen
dc.pagina.final131
dc.pagina.inicio127
dc.revistaJournal of Medical Geneticses_ES
dc.rightsacceso restringido
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.subject.ods03 Good health and well-being
dc.subject.odspa03 Salud y bienestar
dc.subject.otherGenéticaes_ES
dc.subject.otherMetabolismo - Desórdeneses_ES
dc.subject.otherEnfermedades neuromusculareses_ES
dc.subject.otherEnfermedad Mitocondriales_ES
dc.titleFatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutationes_ES
dc.typeartículo
dc.volumenVol. 53
sipa.codpersvinculados238175
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