Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.

doi:10.1093/hmg/ddp320

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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 - 15 Oct 2009

Daoud Fatma, Angeard Nathalie, Demerre Bénédicte, Martie Itxaso, Benyaou Rabah, Leturcq France, Cossée Mireille, Deburgrave Nathalie, Saillour Yoann, Tuffery Sylvie, Urtizberea Andoni, Toutain Annick, Echenne Bernard, Frischman Martine, Mayer Michèle, Desguerre Isabelle, Estournet Brigitte, Réveillère Christian, Penisson-Besnier, Cuisset Jean Marie, Kaplan Jean Claude, Héron Delphine, Rivier François, Chelly Jamel

Abstract excerpt

The presence of variable degrees of cognitive impairment, extending from severe mental retardation to specific deficits, in patients with dystrophinopathies is a well-recognized problem. However, molecular basis underlying mental retardation and its severity remain poorly understood and still a matter of debate. Here, we report one of the largest study based on the comparison of clinical, cognitive, molecular and...

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PMID: 19602481
DOI: 10.1093/hmg/ddp320

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