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Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders

2017-01-27Journal article Restricted access
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dc.contributor.authorCruz, Simão
dc.contributor.authorTaipa, Ricardo
dc.contributor.authorNogueira, Célia
dc.contributor.authorPereira, Cristina
dc.contributor.authorAlmeida, Lígia S.
dc.contributor.authorNeiva, Raquel
dc.contributor.authorGeraldes, Tiago
dc.contributor.authorGuimarães, António
dc.contributor.authorPires, Manuel Melo
dc.contributor.authorVilarinho, Laura
dc.date.accessioned2017-05-11T15:15:18Z
dc.date.available2017-05-11T15:15:18Z
dc.date.issued2017-01-27
dc.descriptionComment in: Phenotypic and genotypic features in pediatric and adult mitochondrial disorders. [Muscle Nerve. 2017]; Reply. [Muscle Nerve. 2017]
dc.description.abstractIntroduction: Mitochondrial disorders display remarkable genetic and phenotypic heterogeneity. Methods: We performed a retrospective analysis of the clinical, histological, biochemical, and genetic features of 65 patients with molecular diagnoses of mitochondrial disorders. Results: The most common genetic diagnosis was a single large-scale mitochondrial DNA (mtDNA) deletion (41.5%), and the most frequent clinical phenotype was chronic progressive external ophthalmoplegia (CPEO). It occurred in 41.5% of all patients, primarily in those with mtDNA deletions. Histological signs of mitochondrial dysfunction were found in 73.8% of patients, and respiratory chain enzyme assay (RCEA) abnormalities were detected in 51.9%. Conclusions: This study confirms the high relative frequency of single large-scale deletions among mitochondrial disorders as well as its particular association with CPEO. Muscle histology seems to be particularly useful in older patients and those with mtDNA deletions, whereas RCEA might be more helpful in young children or individuals with mtDNA depletion.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationMuscle Nerve. 2017 Nov;56(5):868-872. doi: 10.1002/mus.25593. Epub 2017 Jan 27.pt_PT
dc.identifier.doi10.1002/mus.25593pt_PT
dc.identifier.issn0148-639X
dc.identifier.urihttp://hdl.handle.net/10400.18/4704
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWileypt_PT
dc.relation.publisherversionhttp://onlinelibrary.wiley.com/doi/10.1002/mus.25593/pdfpt_PT
dc.subjectChronic Progressive External Ophthalmoplegiapt_PT
dc.subjectMitochondrialpt_PT
dc.subjectMuscle Biopsypt_PT
dc.subjectRagged Red Fiberspt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleClinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorderspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage5pt_PT
oaire.citation.startPage1pt_PT
oaire.citation.titleMuscle and Nervept_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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