Article
[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases].
Revue neurologique - 1 Jan 2000
Humbertclaude V, Hamroun D, Picot M-C, Bezzou K, Bérard C, Boespflug-Tanguy O, Bommelaer C, Campana-Salort E, Cances C, Chabrol B, Commare M-C, Cuisset J-M, de Lattre C, Desnuelle C, Echenne B, Halbert C, Jonquet O, Labarre-Vila A, N'guyen-Morel M-A, Pages M, Pepin J-L, Petitjean T, Pouget J, Ollagnon-Roman E, Richelme C, Rivier F, Sacconi S, Tiffreau V, Vuillerot C, Béroud C, Tuffery-Giraud S, Claustres M
Abstract excerpt
The objective of this work was to study the natural history of dystrophinopathies and the genotype-phenotype correlations made possible by the development of the clinical part of the French DMD database. The collection of 70,000 clinical data for 600 patients with an average longitudinal follow-up of 12years enabled clarification of the natural history of Duchenne and Becker muscular dystrophies and clinical...
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