Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports

Página do item simplificado
dc.citation.issue3
dc.citation.volume9
dc.contributor.authorNozoe, Karen T. [UNIFESP]
dc.contributor.authorAkamine, RicardoT. [UNIFESP]
dc.contributor.authorMazzotti, Diego R. [UNIFESP]
dc.contributor.authorPolesel, Daniel N. [UNIFESP]
dc.contributor.authorGrossklauss, Luis F. [UNIFESP]
dc.contributor.authorTufik, Sergio [UNIFESP]
dc.contributor.authorAndersen, Monica L. [UNIFESP]
dc.contributor.authorMoreira, Gustavo A. [UNIFESP]
dc.coverageAmsterdam
dc.date.accessioned2020-08-14T13:44:15Z
dc.date.available2020-08-14T13:44:15Z
dc.date.issued2016
dc.description.abstractWe discussed two cases of symptomatic female carriers to Duchenne Muscular Dystrophy. The first case is a 20 year-old girl with classical phenotypic manifestation of the disease, similar to the condition in boys. The case 2 is a 62 year-old woman with progressive muscular weakness. The disease is much less common in woman than men so both cases described here are considered rare forms of the disease, with several clinical implications. In both cases, a progressive muscle weakness, impairment in walking and sleeping was observed, in addition to obstructive sleep apnea syndrome and alveolar hypoventilation, that required noninvasive ventilatory support. (C) 2016 Brazilian Association of Sleep. Production and Hosting by Elsevier B.V.en
dc.description.affiliationUniv Fed Sao Paulo, Dept Psychobiol, Sao Paulo, SP, Brazil
dc.description.affiliationUniv Fed Sao Paulo, Dept Neurol, Sao Paulo, SP, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dept Psychobiol, Sao Paulo, SP, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dept Neurol, Sao Paulo, SP, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipAFIP
dc.description.sponsorshipCAPES
dc.description.sponsorshipCNPq
dc.description.sponsorshipFAPESP
dc.description.sponsorshipIDFAPESP: 2014/08067-0
dc.format.extent129-133
dc.identifierhttp://dx.doi.org/10.1016/j.slsci.2016.07.0074
dc.identifier.citationSleep Science. Amsterdam, v. 9, n. 3, p. 129-133, 2016.
dc.identifier.doi10.1016/j.slsci.2016.07.0074
dc.identifier.fileWOS000399920300001.pdf
dc.identifier.issn1984-0659
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/57554
dc.identifier.wosWOS:000399920300001
dc.language.isoeng
dc.publisherElsevier Science Bv
dc.relation.ispartofSleep Science
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectDuchenne Muscular Dystrophyen
dc.subjectFemale symptomaticen
dc.subjectSleep disordersen
dc.subjectNoninvasive ventilatory supporten
dc.titlePhenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reportsen
dc.typeinfo:eu-repo/semantics/article
Arquivos
Pacote Original
Agora exibindo 1 - 1 de 1
Imagem de Miniatura
Nome:
WOS000399920300001.pdf
Tamanho:
550.83 KB
Formato:
Adobe Portable Document Format
Descrição:
Baixar
Coleções
EPM - Artigos