Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

1. Fernández-Marmiesse, A.
2. Carrascosa-Romero, M.C.
3. Alfaro Ponce, B.
4. Nascimento, A.
5. Ortez, C.
6. Romero, N.
7. Palacios, L.
8. Jimenez-Mallebrera, C.
9. Jou, C.
10. Gouveia, S.
11. Couce, M.L.