Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement
Titel:
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement
Auteur:
Fernández-Marmiesse, Ana Carrascosa-Romero, M. Carmen Alfaro Ponce, Blanca Nascimento, Andres Ortez, Carlos Romero, Norma Palacios, Lourdes Jimenez-Mallebrera, Cecilia Jou, Cristina Gouveia, Sofía Couce, María L.