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Use este identificador para citar o ir al link de este elemento: http://hdl.handle.net/1843/57435
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Campo DCValorIdioma
dc.creatorAna Cottapt_BR
dc.creatorEricka Viana Machado Carellospt_BR
dc.creatorAlessandra De-La-Rocque-Ferreirapt_BR
dc.creatorReinaldo Issao Takatapt_BR
dc.creatorRita Horvathpt_BR
dc.creatorElmano Carvalhopt_BR
dc.creatorAntonio Lopes Da-Cunha-Juniorpt_BR
dc.creatorMônica Machado Navarropt_BR
dc.creatorJulia Filardi Paimpt_BR
dc.creatorJaquelin Valicekpt_BR
dc.creatorSidney Baptista-juniorpt_BR
dc.creatorEni Braga da Silveirapt_BR
dc.creatorMaria Isabel Limapt_BR
dc.date.accessioned2023-08-03T19:55:53Z-
dc.date.available2023-08-03T19:55:53Z-
dc.date.issued2021-
dc.citation.volume31pt_BR
dc.citation.issue6pt_BR
dc.citation.spage551pt_BR
dc.citation.epage557pt_BR
dc.identifier.doihttps://doi.org/10.1016/j.nmd.2021.02.017pt_BR
dc.identifier.issn09608966pt_BR
dc.identifier.urihttp://hdl.handle.net/1843/57435-
dc.description.resumoReversible infantile respiratory chain deficiency is a severe neonatal mitochondrial myopathy that resolves spontaneously. It is caused by the homoplasmic m.14674T>C mtDNA mutation and additional nuclear variants in genes interacting with mt-tRNAGlu have been detected in some patients. We present detailed clinical, imaging, and muscle biopsy findings in a boy and a girl with neonatal hypotonia, feeding difficulties, lactic acidosis, and ragged red fibers. Both patients show fat replacement on muscle imaging, which was mild in the boy, but severe in the girl, affecting mostly the posterior leg muscles. In addition to the homoplasmic m.14674T>C, both patients carried heterozygous variants in QRSL1 (c. 686T>G; p.Val299Gly) and EARS2 (c.358C>T; p.Arg120Trp), respectively. It is very important to recognize the clinical and morphological signs of reversible infantile respiratory chain deficiency as patients should receive intensive supportive care in the first 6 months of life. Understanding the mechanism of the spontaneous recovery may lead to novel therapeutic perspectives in other mitochondrial diseases.pt_BR
dc.format.mimetypepdfpt_BR
dc.languageengpt_BR
dc.publisherUniversidade Federal de Minas Geraispt_BR
dc.publisher.countryBrasilpt_BR
dc.publisher.departmentMED - DEPARTAMENTO DE PEDIATRIApt_BR
dc.publisher.initialsUFMGpt_BR
dc.relation.ispartofNeuromuscular Disorders-
dc.rightsAcesso Restritopt_BR
dc.subjectReversible infantile respiratory chain deficiencpt_BR
dc.subjectDigenic inheritancept_BR
dc.subjectMitochondrial myopathypt_BR
dc.subjectImagept_BR
dc.subjectMuscle biopsypt_BR
dc.subjectRagged red fiberspt_BR
dc.subject.otherMiopatias Mitocondriaispt_BR
dc.subject.otherBiópsia Guiada por Imagempt_BR
dc.subject.otherSíndrome de Kearns-Sayrept_BR
dc.titleMuscle fat replacement and modified ragged red fibers in two patients with reversible infantile respiratory chain deficiencypt_BR
dc.typeArtigo de Periódicopt_BR
dc.url.externahttps://www.sciencedirect.com/science/article/pii/S0960896621000596?via%3Dihubpt_BR
dc.identifier.orcid0000-0002-3319-7597pt_BR
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