Article
Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity.
Annals of human genetics - 1 May 2005
Carsana A, Frisso G, Tremolaterra M R, Lanzillo R, Vitale D F, Santoro L, Salvatore F
Abstract excerpt
We have investigated the frequency of deletions in the dystrophin gene in 108 unrelated Duchenne and Becker muscular dystrophy (DMD/BMD) patients from southern Italy (DMD, n. 47; BMD, n. 61) and identified 89 deletions. The de novo mutation rate (about 30%), and the preferentially maternal origin of deletional mutations, analysed in families in which the maternal grandparents were available or their haplotypes...
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