Muscle fat replacement and modified ragged red fibers in two patients with reversible infantile respiratory chain deficiency

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dc.creatorAna Cotta
dc.creatorEricka Viana Machado Carellos
dc.creatorAlessandra De-La-Rocque-Ferreira
dc.creatorReinaldo Issao Takata
dc.creatorRita Horvath
dc.creatorElmano Carvalho
dc.creatorAntonio Lopes Da-Cunha-Junior
dc.creatorMônica Machado Navarro
dc.creatorJulia Filardi Paim
dc.creatorJaquelin Valicek
dc.creatorSidney Baptista-junior
dc.creatorEni Braga da Silveira
dc.creatorMaria Isabel Lima
dc.date.accessioned2023-08-03T19:55:53Z
dc.date.accessioned2025-09-09T00:50:33Z
dc.date.available2023-08-03T19:55:53Z
dc.date.issued2021
dc.format.mimetypepdf
dc.identifier.doihttps://doi.org/10.1016/j.nmd.2021.02.017
dc.identifier.issn09608966
dc.identifier.urihttps://hdl.handle.net/1843/57435
dc.languageeng
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofNeuromuscular Disorders
dc.rightsAcesso Restrito
dc.subjectMiopatias Mitocondriais
dc.subjectBiópsia Guiada por Imagem
dc.subjectSíndrome de Kearns-Sayre
dc.subject.otherReversible infantile respiratory chain deficienc
dc.subject.otherDigenic inheritance
dc.subject.otherMitochondrial myopathy
dc.subject.otherImage
dc.subject.otherMuscle biopsy
dc.subject.otherRagged red fibers
dc.titleMuscle fat replacement and modified ragged red fibers in two patients with reversible infantile respiratory chain deficiency
dc.typeArtigo de periódico
local.citation.epage557
local.citation.issue6
local.citation.spage551
local.citation.volume31
local.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.
local.identifier.orcid0000-0002-3319-7597
local.publisher.countryBrasil
local.publisher.departmentMED - DEPARTAMENTO DE PEDIATRIA
local.publisher.initialsUFMG
local.url.externahttps://www.sciencedirect.com/science/article/pii/S0960896621000596?via%3Dihub

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