Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age
About this item
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Author / Creator
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 and Desguerre, Isabelle
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
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 inacti...
Alternative Titles
Full title
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3722679
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3722679
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2012.269
