Article
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
Molecular neurobiology - 1 Nov 2017
Evilä Anni, Palmio Johanna, Vihola Anna, Savarese Marco, Tasca Giorgio, Penttilä Sini, Lehtinen Sara, Jonson Per Harald, De Bleecker Jan, Rainer Peter, Auer-Grumbach Michaela, Pouget Jean, Salort-Campana Emmanuelle, Vilchez Juan J, Muelas Nuria, Olive Montse, Hackman Peter, Udd Bjarne
Abstract excerpt
Tibial muscular dystrophy (TMD) is the first described human titinopathy. It is a mild adult-onset slowly progressive myopathy causing weakness and atrophy in the anterior lower leg muscles. TMD is caused by mutations in the last two exons, Mex5 and Mex6, of the titin gene (TTN). The first reported TMD mutations were dominant, but the Finnish founder mutation FINmaj, an 11-bp insertion/deletion in Mex6, in...
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