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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Author(s):
Nozoe, Karen T. ; Akamine, RicardoT. ; Mazzotti, Diego R. ; Polesel, Daniel N. ; Grossklauss, Luis F. ; Tufik, Sergio ; Andersen, Monica L. ; Moreira, Gustavo A.
Total Authors: 8
Document type: Journal article
Source: SLEEP SCIENCE; v. 9, n. 3, p. 129-133, JUL-SEP 2016.
Web of Science Citations: 4
Abstract

We 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. (AU)

FAPESP's process: 14/08067-0 - Profile of physical and psychological health of mothers-caregivers of children with Duchenne Muscular Dystrophy
Grantee:Karen Tieme Nozoe
Support Opportunities: Scholarships in Brazil - Doctorate (Direct)