Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

Evila, A; Palmio, J; Vihola, A; Savarese, M; Tasca, G; Penttila, S; Lehtinen, S; Jonson, PH; De Bleecker, J; Rainer, P; Auer-Grumbach, M; Pouget, J; Salort-Campana, E; Vilchez, JJ; Muelas, N; Olive, M; Hackman, P; Udd, B

Evila, A (reprint author), Univ Helsinki, Biomed Helsinki, Folkhalsan Inst Genet, Haartmaninkatu 8, FIN-00290 Helsinki, Finland.; Evila, A (reprint author), Univ Helsinki, Dept Med Genet, Haartman Inst, Haartmaninkatu 8, FIN-00290 Helsinki, Finland.

MOLECULAR NEUROBIOLOGY, 2017; 54 (9): 7212

Abstract

Tibial muscular dystrophy (TMD) is the first described human titinopathy. It is a mild adult-onset slowly progressive myopathy causing weakness and at......

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