Article
Identification of duchenne muscular dystrophy female carriers by fluorescence in situ hybridization and RT-PCR.
Genetic testing - 1 Jun 2008
Velázquez-Wong Ana Claudia, Hernández-Huerta César, Márquez-Calixto Areli, Hernández-Aguilar Fidel Omar, Rodríguez-Cruz Maricela, Salamanca-Gómez Fabio, Coral-Vázquez Ramón
Abstract excerpt
Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder caused by mutations in the dystrophin DMD gene located at Xp21.1 region. Up to 65% of the patients present dystrophin gene deletions. Mothers of DMD patients have a two-thirds chance of carrying a dystrophin mutation. The female carrier will transmit the disease gene to half of her sons and half of her daughters. As the recurrence...
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