The nonsense mutation stop+4 model correlates with motor changes in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a progressive, X-linked neuromuscular disorder caused by mutations in the dystrophin gene [1]. Deletions are the most frequent type of mutation in DMD patients (65%) followed by small mutations (25%) and duplications (9%) [2 –4].
Source: Neuromuscular Disorders - Category: Neurology Authors: Claudia Brogna, Giorgia Coratti, Rachele Rossi, Marcella Neri, Sonia Messina, Adele D ’ Amico, Claudio Bruno, Simona Lucibello, Gianluca Vita, Angela Berardinelli, Francesca Magri, Federica Ricci, Marina Pedemonte, Tiziana Mongini, Roberta Battini, Luca Source Type: research