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Eur J Paediatr Neurol ; 17(2): 212-8, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22959238

RESUMO

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.


Assuntos
Distrofia Muscular de Duchenne/complicações , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/fisiopatologia , Adolescente , Criança , Distrofina/genética , Feminino , Heterozigoto , Humanos
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