Exome sequencing identifies novel truncating TTN mutations with Emery–Dreifuss like muscular dystrophy and secondary calpain3 deficiency without cardiac abnormality
Rafael de Cid(Centre National de Recherche en Génomique Humaine), Gisèle Bonne(Stanford University), Rabah Ben Yaou(Centre National de la Recherche Scientifique), Sylvain Baulande, Karine Charton(Inserm), Bjarne Udd(Folkhälsans Forskningscentrum), France Leturcq(Centre National de la Recherche Scientifique), E. Malfatti(Institut de Myologie), Norma B. Romero(Centre National de la Recherche Scientifique), B. Eymard(Assistance Publique – Hôpitaux de Paris), Isabelle Nelson(University of Bonn), Carinne Roudaut(Inserm)
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