Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: A case report

Elena Martoni, Stefania Petrini, Cecilia Trabanelli, Patrizia Sabatelli, Anna Urciuolo, Rita Selvatici, Adele D'Amico, Sofia Falzarano, Enrico Bertini, Paolo Bonaldo, Alessandra Ferlini, Francesca Gualandi

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Medicine & Life Sciences