Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Human Mutation
Bryen, Samantha J SJ; Ewans, Lisa J LJ; Pinner, Jason J; MacLennan, Suzanna C SC; Donkervoort, Sandra S; Castro, Diana D; Töpf, Ana A; O'Grady, Gina G; Cummings, Beryl B; Chao, Katherine R KR; Weisburd, Ben B; Francioli, Laurent L; Faiz, Fathimath F; Bournazos, Adam M AM; Hu, Ying Y; Grosmann, Carla C; Malicki, Denise M DM; Doyle, Helen H; Witting, Nanna N; Vissing, John J; Claeys, Kristl G KG; Urankar, Kathryn K; Beleza-Meireles, Ana A; Baptista, Julia J; Ellard, Sian S; Savarese, Marco M; Johari, Mridul M; Vihola, Anna A; Udd, Bjarne B; Majumdar, Anirban A; Straub, Volker V; Bönnemann, Carsten G CG; MacArthur, Daniel G DG; Davis, Mark R MR; Cooper, Sandra T ST