Duchenne muscular dystrophy in a girl with chromosomal translocation |
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Authors: | L C Werneck S M Lemos N Magdalena |
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Affiliation: | Especialidade de Neurologia, Departamento de Clínica Médica - Hospital de Clinicas, Curitiba PR - Brasil. |
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Abstract: | It is reported the case of an 8-year-old girl with clinical and laboratory findings suggestive of Duchenne muscular dystrophy who had a chromosome translocation involving the X chromosome, 46,X,t(Bp+,Xq-). A review about Duchenne muscular dystrophy in females is made, with emphasis about chromosome abnormalities, mainly chromosome translocations. |
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