title: Classic manifestations of Duchenne dystrophy in a young female patient: a case report.
abstract: Duchenne and Becker muscular dystrophies (DMD/DMB) are neuromuscular diseases linked to chromosome X and affect mainly male individuals. Duchenne muscular dystrophy is the most severe form of the disease, leading to a decreased patient survival compared with individuals with Becker type and female carriers of the mutated gene. In this paper we present the case of a female adolescent whose clinical picture and disease course closely resembled male individuals.
authors.affiliation: The SARAH Network of Neurorehabilitaion Hospitals, SARAH International Center for Neurorehabilitation and Neuroscience, Brazil. marcioley@hotmail.com
authors.forename: Marcio
authors.initials: M
authors.lastname: Leyser
authors.forename: Fernanda J P
authors.initials: FJ
authors.lastname: Marques
authors.forename: Marco Aurelio C
authors.initials: MA
authors.lastname: Elias
authors.forename: Marcia C
authors.initials: MC
authors.lastname: Diniz Gonsalves
authors.forename: Odilon Soares
authors.initials: OS
authors.lastname: da Silva
authors.forename: Ricardo S
authors.initials: RS
authors.lastname: Carvalho
authors.forename: Cynthia
authors.initials: C
authors.lastname: Costa e Silva
authors.forename: Marcio Moacyr
authors.initials: MM
authors.lastname: de Vasconcelos
authors.forename: Osvaldo J M
authors.initials: OJ
authors.lastname: Nascimento
mesh_terms: D000293:Adolescent; D002648:Child; D016189:Dystrophin / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology*
chemical_list: C484258:DMD protein, human; D016189:Dystrophin