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Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression
Human Molecular Genetics, 09/24/09

Daoud F et al. – Altogether, the reliable phenotype–genotype correlations in combination with Dp71 mRNA and protein expression studies, strongly indicate that loss–of–function of all dystrophin products is systematically associated with severe form of MR, and Dp71 deficit is a factor that contributes in the severity of MR and may account for a shift of 2 SD downward of the intelligence quotient.


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