Article
Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations.
Human genetics - 1 Jan 2000
Pillers D A, Fitzgerald K M, Duncan N M, Rash S M, White R A, Dwinnell S J, Powell B R, Schnur R E, Ray P N, Cibis G W, Weleber R G
Abstract excerpt
The dark-adapted electroretinogram (ERG) of patients with Duchenne and Becker muscular dystrophy (DMD/BMD) shows a marked reduction in b-wave amplitude. Genotype-phenotype studies of mouse models for DMD show position-specific effects of the mutations upon the phenotype: mice with 5' defects of dystrophin have normal ERGs, those with defects in the central region have a normal b-wave amplitude associated with...
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