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Author Florence L |
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4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Karine C ; Daniele N ; Florence L ; Vihola A ; Roudaut C ; Monjaret F ; Pion D ; Tarrade A ; Sarparanta J ; Udd B ; Richard I | 2011Titin is a giant protein expressed in both skeletal and cardiac muscles. Several pathogenic mutations were identified in its two last exons causing muscular dystrophy phenotypes. The most common mutation, FINmaj, results in the replacement of 4 [...]Article
Karine C ; Karine C ; Carinne R ; Suel L ; Vihola A ; Florence L ; Monjaret F ; Udd B | AFM-TELETHON | 2011Genetic defects in Calpain 3 leads to Limb-Girdle Muscular Dystrophy type 2A (LGMD2A). There is no treatment for this disease to date. We previously evaluated the potential of recombinant adeno-associated virus (rAAV) vectors for gene therapy in[...]