Article
Atypical phenotypes in titinopathies explained by second titin mutations.
Annals of neurology - 1 Feb 2014
Evilä Anni, Vihola Anna, Sarparanta Jaakko, Raheem Olayinka, Palmio Johanna, Sandell Satu, Eymard Bruno, Illa Isabel, Rojas-Garcia Ricard, Hankiewicz Karolina, Negrão Luis, Löppönen Tuija, Nokelainen Pekka, Kärppä Mikko, Penttilä Sini, Screen Mark, Suominen Tiina, Richard Isabelle, Hackman Peter, Udd Bjarne
Abstract excerpt
OBJECTIVE: Several patients with previously reported titin gene (TTN) mutations causing tibial muscular dystrophy (TMD) have more complex, severe, or unusual phenotypes. This study aimed to clarify the molecular cause of the variant phenotypes in 8 patients of 7 European families. METHODS: Clinical, histopathological, and muscle imaging data of patients and family members were reanalyzed. The titin protein was...
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