Article
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Genes - 31 Jul 2021
Juntas Morales Raul, Perrin Aurélien, Solé Guilhem, Lacourt Delphine, Pegeot Henri, Walther-Louvier Ulrike, Cintas Pascal, Cances Claude, Espil Caroline, Theze Corinne, Zenagui Reda, Yauy Kevin, Cosset Elodie, Renard Dimitri, Rigau Valerie, Maues de Paula Andre, Uro-Coste Emmanuelle, Arne-Bes Marie-Christine, Martin Négrier Marie-Laure, Leboucq Nicolas, Acket Blandine, Malfatti Edoardo, Biancalana Valérie, Metay Corinne, Richard Pascale, Rendu John, Rivier François, Koenig Michel, Cossée Mireille
Abstract excerpt
Diagnosis of myopathies is challenged by the high genetic heterogeneity and clinical overlap of the various etiologies. We previously reported a Next-Generation Sequencing strategy to identify genetic etiology in patients with undiagnosed Limb-Girdle Muscular Dystrophies, Congenital Myopathies, Congenital Muscular Dystrophies, Distal Myopathies, Myofibrillar Myopathies, and hyperCKemia or effort intolerance,...
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