An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Genes
Juntas Morales, Raul R; Perrin, Aurélien A; Solé, Guilhem G; Lacourt, Delphine D; Pegeot, Henri H; Walther-Louvier, Ulrike U; Cintas, Pascal P; Cances, Claude C; Espil, Caroline C; Theze, Corinne C; Zenagui, Reda R; Yauy, Kevin K; Cosset, Elodie E; Renard, Dimitri D; Rigau, Valerie V; Maues de Paula, Andre A; Uro-Coste, Emmanuelle E; Arne-Bes, Marie-Christine MC; Martin Négrier, Marie-Laure ML; Leboucq, Nicolas N; Acket, Blandine B; Malfatti, Edoardo E; Biancalana, Valérie V; Metay, Corinne C; Richard, Pascale P; Rendu, John J; Rivier, François F; Koenig, Michel M; Cossée, Mireille M
Publication Date: 2021-07-31
Variant appearance in text: TTN: 26503A>T; Lys8835*