Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders: authors’ reply to the Drs. Finsterer and Zarrouk-Mahjoub comments

Detalhes bibliográficos
Autor(a) principal: Cruz, Simão
Data de Publicação: 2017
Outros Autores: Taipa, Ricardo, Nogueira, Célia, Melo-Pires, Manuel, 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/10400.18/4827
Resumo: Letters to the Editor
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spelling Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders: authors’ reply to the Drs. Finsterer and Zarrouk-Mahjoub commentsMitochondrial DisordersmtDNAChronic Progressive External OphthalmoplegiaMuscle BiopsyRagged Red FibersRespiratory ChainDoenças GenéticasLetters to the EditorAuthors’ reply to the Drs. Finsterer and Zarrouk-Mahjoub comments for the study “Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders” 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. (Full article reference: Cruz S, Taipa R, Nogueira C, Pereira C, Almeida LS, Neiva R, Geraldes T, Guimarães A, Melo-Pires M, Vilarinho L. Clinical, biochemical, molecular and histological features of 65 Portuguese patients with mitochondrial disorders. Muscle Nerve. 2017 Nov;56(5):868-872. doi: 10.1002/mus.25593. Epub 2017 Apr 4).WileyRepositório Científico do Instituto Nacional de SaúdeCruz, SimãoTaipa, RicardoNogueira, CéliaMelo-Pires, ManuelVilarinho, Laura2018-03-26T00:30:13Z2017-112017-11-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/4827engMuscle Nerve. 2017 Nov;56(5):E49. doi:10.1002/mus.25650. Epub 2017 Mar 250148-639X10.1002/mus.25650info: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:RCAAP2023-07-20T15:40:34Zoai:repositorio.insa.pt:10400.18/4827Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:39:37.860079Repositório 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: authors’ reply to the Drs. Finsterer and Zarrouk-Mahjoub comments
title Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders: authors’ reply to the Drs. Finsterer and Zarrouk-Mahjoub comments
spellingShingle Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders: authors’ reply to the Drs. Finsterer and Zarrouk-Mahjoub comments
Cruz, Simão
Mitochondrial Disorders
mtDNA
Chronic Progressive External Ophthalmoplegia
Muscle Biopsy
Ragged Red Fibers
Respiratory Chain
Doenças Genéticas
title_short Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders: authors’ reply to the Drs. Finsterer and Zarrouk-Mahjoub comments
title_full Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders: authors’ reply to the Drs. Finsterer and Zarrouk-Mahjoub comments
title_fullStr Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders: authors’ reply to the Drs. Finsterer and Zarrouk-Mahjoub comments
title_full_unstemmed Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders: authors’ reply to the Drs. Finsterer and Zarrouk-Mahjoub comments
title_sort Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders: authors’ reply to the Drs. Finsterer and Zarrouk-Mahjoub comments
author Cruz, Simão
author_facet Cruz, Simão
Taipa, Ricardo
Nogueira, Célia
Melo-Pires, Manuel
Vilarinho, Laura
author_role author
author2 Taipa, Ricardo
Nogueira, Célia
Melo-Pires, Manuel
Vilarinho, Laura
author2_role 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
Melo-Pires, Manuel
Vilarinho, Laura
dc.subject.por.fl_str_mv Mitochondrial Disorders
mtDNA
Chronic Progressive External Ophthalmoplegia
Muscle Biopsy
Ragged Red Fibers
Respiratory Chain
Doenças Genéticas
topic Mitochondrial Disorders
mtDNA
Chronic Progressive External Ophthalmoplegia
Muscle Biopsy
Ragged Red Fibers
Respiratory Chain
Doenças Genéticas
description Letters to the Editor
publishDate 2017
dc.date.none.fl_str_mv 2017-11
2017-11-01T00:00:00Z
2018-03-26T00:30:13Z
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/10400.18/4827
url http://hdl.handle.net/10400.18/4827
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Muscle Nerve. 2017 Nov;56(5):E49. doi:10.1002/mus.25650. Epub 2017 Mar 25
0148-639X
10.1002/mus.25650
dc.rights.driver.fl_str_mv info:eu-repo/semantics/embargoedAccess
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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)
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