Article
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
European journal of human genetics : EJHG - 1 Aug 2013
Mercier Sandra, Toutain Annick, Toussaint Aurélie, Raynaud Martine, de Barace Claire, Marcorelles Pascale, Pasquier Laurent, Blayau Martine, Espil Caroline, Parent Philippe, Journel Hubert, Lazaro Leila, Andoni Urtizberea Jon, Moerman Alexandre, Faivre Laurence, Eymard Bruno, Maincent Kim, Gherardi Romain, Chaigne Denys, Ben Yaou Rabah, Leturcq France, Chelly Jamel, Desguerre Isabelle
Abstract excerpt
The molecular basis underlying the clinical variability in symptomatic Duchenne muscular dystrophy (DMD) carriers are still to be precised. We report 26 cases of early symptomatic DMD carriers followed in the French neuromuscular network. Clinical presentation, muscular histological analysis and type of gene mutation, as well as X-chromosome inactivation (XCI) patterns using DNA extracted from peripheral blood or...
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