Effects of Dystrophin Isoforms on Signal Transduction through Neural Retina: Genotype–Phenotype Analysis of Duchenne Muscular Dystrophy Mouse Mutants

Duchenne and Becker muscular dystrophy patients have mutations in the dystrophin gene. Most show reduced b-wave amplitudes in the dark-adapted electroretinogram (ERG). We studied normal C57BL/6J mice and five X-linked muscular dystrophy strains with different dystrophin mutations to determine whether the location of the mutation within the gene affects the mouse ERG and to correlate such effects with dystrophin isoform expression. Amplitudes …