Article
Somatic mosaicism for Duchenne dystrophy: evidence for genetic normalization mitigating muscle symptoms.
American journal of medical genetics. Part A - 1 Jul 2009
Kesari Akanchha, Neel Robert, Wagoner Lynne, Harmon Brennan, Spurney Christopher, Hoffman Eric P
Abstract excerpt
We describe a young adult male presenting with cardiac failure necessitating cardiac transplantation 7 months after presentation. Skeletal muscle biopsy showed mosaic immunostaining for dystrophin. DNA studies showed somatic mosaicism for a nonsense mutation in the dystrophin gene (Arg2905X). The frequency of normal versus mutant genes were determined in blood/DNA (50:50), muscle/DNA (80:20) and muscle/mRNA...
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