Novel CAPN3 variant associated with an autosomal dominant calpainopathy von Cerino, M., Campana‐Salort, E., Salvi, A., Cintas, P., Renard, D., Juntas Morales, R., Tard, C., Leturcq, F., Stojkovic, T., Bonello‐Palot, N., Gorokhova, S., Mortreux, J., Maues De Paula, A., Lévy, N., Pouget, J., Cossée, M., Bartoli, M., Krahn, M., Attarian, S.

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Diagnostic anoctamin‐5 protein defect in patients with ANO5‐mutated muscular dystrophy von Vihola, A., Luque, H., Savarese, M., Penttilä, S., Lindfors, M., Leturcq, F., Eymard, B., Tasca, G., Brais, B., Conte, T., Charton, K., Richard, I., Udd, B.

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Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression von Daoud, Fatma, Angeard, Nathalie, Demerre, Bénédicte, Martie, Itxaso, Benyaou, Rabah, Leturcq, France, Cossée, Mireille, Deburgrave, Nathalie, Saillour, Yoann, Tuffery, Sylvie, Urtizberea, Andoni, Toutain, Annick, Echenne, Bernard, Frischman, Martine, Mayer, Michèle, Desguerre, Isabelle, Estournet, Brigitte, Réveillère, Christian, Penisson-Besnier, Cuisset, Jean Marie, Kaplan, Jean Claude, Héron, Delphine, Rivier, François, Chelly, Jamel

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Dilated cardiomyopathy in patients with mutations in anoctamin 5 von Wahbi, K, Béhin, A, Bécane, H.M, Leturcq, F, Cossée, M, Laforêt, P, Stojkovic, T, Carlier, P, Toussaint, M, Gaxotte, V, Cluzel, P, Eymard, B, Duboc, D

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Genetics and molecular aspects of dystrophinopathies von Leturcq, F, Tuffery-Giraud, S

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P88 – 2855: Deficient alpha-dystroglycan presenting with rhabdomyolysis von Kuster, A, Caillaux, G, Leturcq, F, Romero, N

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Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T) von Oestergaard, S T, Stojkovic, T, Dahlqvist, J R, Bouchet-Seraphin, C, Nectoux, J, Leturcq, F, Cossée, M, Solé, G, Thomsen, C, Krag, T O, Vissing, J

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Complete fatty degeneration of lumbar erector spinae muscles caused by a primary dysferlinopathy von Seror, P., Krahn, M., Laforet, P., Leturcq, F., Maisonobe, T.

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HyperCKemia and myalgia are the most common presentation of anoctamin-5 (ANO5) related myopathy in French patients von Papadopoulos, C, Laforêt, P, Nectoux, J, Stojkovic, T, Wahbi, K, Carlier, R, Carlier, P, Leonard-Louis, S, Leturcq, F, Eymard, B, Behin, A

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90P Genetic heterogeneity of limb girdle myopathies in Tunisia: more than sarcoglycanopathies von Farhat, E., Miladi, N., Chaabouni, M., Amouri, R., Leturcq, F.

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New POMT2 mutations causing congenital muscular dystrophy : Identification of a founder mutation von YANAGISAWA, A, BOUCHET, C, GUICHENEY, P, VAN DEN BERGH, P. Y. K, CUISSET, J.-M, VIOLLET, L, LETURCQ, F, ROMERO, N. B, QUIJANO-ROY, S, FARDEAU, M, SETA, N

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LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene von Sáenz, A., Leturcq, F., Cobo, A. M., Poza, J. J., Ferrer, X., Otaegui, D., Camaño, P., Urtasun, M., Vílchez, J., Gutiérrez-Rivas, E., Emparanza, J., Merlini, L., Paisán, C., Goicoechea, M., Blázquez, L., Eymard, B., Lochmuller, H., Walter, M., Bonnemann, C., Figarella-Branger, D., Kaplan, J. C., Urtizberea, J. A., Martí-Massó, J. F., de Munain, A. López

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OPALE: A patient registry for laminopathies and emerinopathies in France von Yaou, R. Ben, Vigouroux, C, Quijano-Roy, S, Campanna-Salort, E, Cintas, P, Cuisset, J, Juntas-Morales, R, Labombarda, F, Nadaj-Pakleza, A, Pereon, Y, Sole, G, Vantyghem, M, Richard, P, Leturcq, F, De Sandre-Giovannol, A, Duboc, D, Wahbi, K, Eymard, B, Bonne, G

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Exome sequencing identifies novel truncating TTN mutations with Emery–Dreifuss like muscular dystrophy and secondary calpain3 deficiency without cardiac abnormality von de Cid, R, Ben Yaou, R, Roudaut, C, Baulande, S, Leturcq, F, Bonne, G, Udd, B, Romero, N, Charton, K, Malfatti, E, Nelson, I, Eymard, B, Richard, I

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Frequency and natural history of sarcoglycanopathies in Paris neuromuscular centers von Guimarães-Costa, R, Behin, A, Stojkovic, T, Leonard-Louis, S, Desguerre, I, Barnerias, C, Mayer, M, Isapof, A, Estournet, B, Leturcq, F, Semplicini, C, Eymard, B, Laforêt, P

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LIMB GIRDLE MUSCULAR DYSTROPHIES von Masingue, M., Eymard, B., Leturcq, F.

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LIMB GIRDLE MUSCULAR DYSTROPHIES: P.136 POMT2 homozygous mutation presenting as intellectual deficiency and isolated elevated CK in siblings von Masingue, M., Eymard, B., Leturcq, F.

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Multitissular involvement in a family with LMNA and EMD mutations : Role of digenic mechanism? von BEN YAOU, R, TOUTAIN, A, LITIM, K. E, RAHMOUN-CHIALI, N, RICHARD, P, BABUTY, D, RECAN-BUDIARTHA, D, BONNE, G, ARIMURA, T, DEMAY, L, MASSART, C, PECCATE, C, MUCHIR, A, LLENSE, S, DEBURGRAVE, N, LETURCQ, F

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G.P.142 von Ben Yaou, R, Gerard, M, Chami, K, Sehier, A, Belin, A, Labombarda, F, Richard, P, Bonne, G, Leturcq, F, Chapon, F

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Highly variable skeletal muscle histo-immunocytochemical and ultrastructural features in titin-related myopathies von Avila-Polo, R, Malfatti, E, Nelson, I, Nectoux, J, Böhm, J, Abath-Neto, O, Eymard, B, Monges, S, Lubieniecki, F, Brochier, G, Beuvin, M, Madelaine, A, Labasse, C, Taratuto, A, Udd, B, Richard, I, Leturcq, F, Bonne, G, Laporte, J, Romero, N

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