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ERG phenotype of a dystrophin mutation in heterozygous female carriers of Duchenne muscular dystrophy

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 h...

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Autors principals: Fitzgerald, K., Cibis, G., Gettel, A. H., Rinaldi, R., Harris, D., White, R.
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 1999
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734342/
https://ncbi.nlm.nih.gov/pubmed/10227401
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