Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report
Titel:
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report
Auteur:
Martoni, Elena Petrini, Stefania Trabanelli, Cecilia Sabatelli, Patrizia Urciuolo, Anna Selvatici, Rita D'Amico, Adele Falzarano, Sofia Bertini, Enrico Bonaldo, Paolo Ferlini, Alessandra Gualandi, Francesca