Article
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
Neuromuscular disorders : NMD - 1 Dec 2008
Hackman Peter, Marchand Sylvie, Sarparanta Jaakko, Vihola Anna, Pénisson-Besnier Isabelle, Eymard Bruno, Pardal-Fernández Jose Manuel, Hammouda El-Hadi, Richard Isabelle, Illa Isabel, Udd Bjarne
Abstract excerpt
Mutations in C-terminal titin cause autosomal dominant tibial muscular dystrophy (TMD) as reported previously. Samples from 25 new families and 25 sporadic new distal myopathy cases were screened for titin mutations. Three novel mutations were discovered in two families from Spain and two familie...
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