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

2017-11Journal article Restricted access
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dc.contributor.authorCruz, Simão
dc.contributor.authorTaipa, Ricardo
dc.contributor.authorNogueira, Célia
dc.contributor.authorMelo-Pires, Manuel
dc.contributor.authorVilarinho, Laura
dc.date.accessioned2017-11-10T12:53:30Z
dc.date.available2018-03-26T00:30:13Z
dc.date.issued2017-11
dc.descriptionLetters to the Editorpt_PT
dc.description.abstractAuthors’ 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).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationMuscle Nerve. 2017 Nov;56(5):E49. doi:10.1002/mus.25650. Epub 2017 Mar 25pt_PT
dc.identifier.doi10.1002/mus.25650pt_PT
dc.identifier.issn0148-639X
dc.identifier.urihttp://hdl.handle.net/10400.18/4827
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWileypt_PT
dc.relation.publisherversionhttp://onlinelibrary.wiley.com/doi/10.1002/mus.25650/epdfpt_PT
dc.subjectMitochondrial Disorderspt_PT
dc.subjectmtDNApt_PT
dc.subjectChronic Progressive External Ophthalmoplegiapt_PT
dc.subjectMuscle Biopsypt_PT
dc.subjectRagged Red Fiberspt_PT
dc.subjectRespiratory Chainpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleClinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders: authors’ reply to the Drs. Finsterer and Zarrouk-Mahjoub commentspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPageE49pt_PT
oaire.citation.issue5pt_PT
oaire.citation.startPageE49pt_PT
oaire.citation.titleMuscle and Nervept_PT
oaire.citation.volume56pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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