Article
ERG phenotype of a dystrophin mutation in heterozygous female carriers of Duchenne muscular dystrophy.
Journal of medical genetics - 1 Apr 1999
Fitzgerald K M, Cibis G W, Gettel A H, Rinaldi R, Harris D J, White R A
Abstract excerpt
PURPOSE: Mutations in the dystrophin gene result in Duchenne muscular dystrophy (DMD). DMD is associated with an abnormal electroretinogram (ERG) if the mutation disrupts the translation of retinal dystrophin (Dp260). Our aim was to determine if incomplete ERG abnormalities would be associated with heterozygous carriers of dystrophin gene mutations. METHODS: Ganzfeld ERGs were obtained under scotopic and photopic...
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