Article
Duchenne muscular dystrophy in a female patient with a karyotype of 46,X,i(X)(q10).
The Tohoku journal of experimental medicine - 1 Oct 2010
Ou Zhanhui, Li Shaoying, Li Qing, Chen Xiaolin, Liu Weiqiang, Sun Xiaofang
Abstract excerpt
Duchenne muscular dystrophy (DMD) is a severe recessive X-linked form of muscular dystrophy caused by mutations in the dystrophin gene and it affects males predominantly. Here we report a 4-year-old girl with DMD from a healthy family, in which her parents and sister have no DMD genotype. A PCR-b...
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