Article
Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype.
Journal of the neurological sciences - 1 Oct 1993
Vainzof M, Passos-Bueno M R, Takata R I, Pavanello R de C, Zatz M
Abstract excerpt
In Duchenne muscular dystrophy, the progression of the disease is always severe and predictable, while in Becker dystrophy there is a wide variability (intra and inter familial) in the severity of the phenotype. We report here a family in which the proband, who is currently 15 years old, is showing a severe DMD progression, while his affected maternal uncle, aged 29, has a more benign course, compatible with BMD....
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