Article
Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates.
Brain : a journal of neurology - 1 Feb 1994
Comi G P, Prelle A, Bresolin N, Moggio M, Bardoni A, Gallanti A, Vita G, Toscano A, Ferro M T, Bordoni A
Abstract excerpt
We have investigated 59 Becker muscular dystrophy patients, representing 56 independent mutations, to test the hypothesis of predictability of muscle dystrophin expression and clinical phenotype based on location of dystrophin gene mutations. Partial intragenic deletions and duplications account for 82% of the independent mutations, of which 76.7% were deletions and 5.3% duplications. Mutations in which...
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