Article
Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients.
Journal of human genetics - 1 Jan 2014
Lee Tomoko, Takeshima Yasuhiro, Kusunoki Noriko, Awano Hiroyuki, Yagi Mariko, Matsuo Masafumi, Iijima Kazumoto
Abstract excerpt
Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked inherited muscular disorders caused by mutations in the dystrophin gene. Two-thirds of DMD cases are thought to be caused by inheritance from carrier mothers and this study aimed to clarify and compare the carrier frequency of mothers of DMD and BMD patients according to the mutation type. We included 139 DMD and 19 BMD mothers. Of these, 113...
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