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

Detalhes bibliográficos
Autor(a) principal: Cruz, Simão
Data de Publicação: 2017
Outros Autores: Taipa, Ricardo, Nogueira, Célia, Pereira, Cristina, Almeida, Lígia S., Neiva, Raquel, Geraldes, Tiago, Guimarães, António, Pires, Manuel Melo, Vilarinho, Laura
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/4704
Resumo: Comment in: Phenotypic and genotypic features in pediatric and adult mitochondrial disorders. [Muscle Nerve. 2017]; Reply. [Muscle Nerve. 2017]
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spelling Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disordersChronic Progressive External OphthalmoplegiaMitochondrialMuscle BiopsyRagged Red FibersDoenças GenéticasComment in: Phenotypic and genotypic features in pediatric and adult mitochondrial disorders. [Muscle Nerve. 2017]; Reply. [Muscle Nerve. 2017]Introduction: 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.WileyRepositório Científico do Instituto Nacional de SaúdeCruz, SimãoTaipa, RicardoNogueira, CéliaPereira, CristinaAlmeida, Lígia S.Neiva, RaquelGeraldes, TiagoGuimarães, AntónioPires, Manuel MeloVilarinho, Laura2017-05-11T15:15:18Z2017-01-272017-01-27T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/4704engMuscle Nerve. 2017 Nov;56(5):868-872. doi: 10.1002/mus.25593. Epub 2017 Jan 27.0148-639X10.1002/mus.25593info:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:40:28Zoai:repositorio.insa.pt:10400.18/4704Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:39:28.966455Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders
title Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders
spellingShingle Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders
Cruz, Simão
Chronic Progressive External Ophthalmoplegia
Mitochondrial
Muscle Biopsy
Ragged Red Fibers
Doenças Genéticas
title_short Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders
title_full Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders
title_fullStr Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders
title_full_unstemmed Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders
title_sort Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders
author Cruz, Simão
author_facet Cruz, Simão
Taipa, Ricardo
Nogueira, Célia
Pereira, Cristina
Almeida, Lígia S.
Neiva, Raquel
Geraldes, Tiago
Guimarães, António
Pires, Manuel Melo
Vilarinho, Laura
author_role author
author2 Taipa, Ricardo
Nogueira, Célia
Pereira, Cristina
Almeida, Lígia S.
Neiva, Raquel
Geraldes, Tiago
Guimarães, António
Pires, Manuel Melo
Vilarinho, Laura
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Cruz, Simão
Taipa, Ricardo
Nogueira, Célia
Pereira, Cristina
Almeida, Lígia S.
Neiva, Raquel
Geraldes, Tiago
Guimarães, António
Pires, Manuel Melo
Vilarinho, Laura
dc.subject.por.fl_str_mv Chronic Progressive External Ophthalmoplegia
Mitochondrial
Muscle Biopsy
Ragged Red Fibers
Doenças Genéticas
topic Chronic Progressive External Ophthalmoplegia
Mitochondrial
Muscle Biopsy
Ragged Red Fibers
Doenças Genéticas
description Comment in: Phenotypic and genotypic features in pediatric and adult mitochondrial disorders. [Muscle Nerve. 2017]; Reply. [Muscle Nerve. 2017]
publishDate 2017
dc.date.none.fl_str_mv 2017-05-11T15:15:18Z
2017-01-27
2017-01-27T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/4704
url http://hdl.handle.net/10400.18/4704
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Muscle Nerve. 2017 Nov;56(5):868-872. doi: 10.1002/mus.25593. Epub 2017 Jan 27.
0148-639X
10.1002/mus.25593
dc.rights.driver.fl_str_mv info:eu-repo/semantics/embargoedAccess
eu_rights_str_mv embargoedAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Wiley
publisher.none.fl_str_mv Wiley
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
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collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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