Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

EC, Oates; KJ, Jones; S, Donkervoort; A, Charlton; S, Brammah; JE 3rd, Smith; JE 3rd, Smith; JS, Ware; KS, Yau; LC, Swanson; N, Whiffin; AJ, Peduto; A, Bournazos; LB, Waddell; MA, Farrar; HA, Sampaio; HL, Teoh; PJ, Lamont; D, Mowat; RB, Fitzsimons; AJ, Corbett; MM, Ryan; GL, O'Grady; SA, Sandaradura; R, Ghaoui; H, Joshi; JL, Marshall; MA, Nolan; S, Kaur; J, Punetha; A, Töpf; E, Harris; M, Bakshi; CA, Genetti; M, Marttila; U, Werlauff; N, Streichenberger; A, Pestronk; I, Mazanti; JR, Pinner; C, Vuillerot; C, Grosmann; A, Camacho; P, Mohassel; ME, Leach; AR, Foley; D, Bharucha-Goebel; J, Collins; AM, Connolly; HR, Gilbreath; ST, Iannaccone; D, Castro; BB, Cummings; RI, Webster; L, Lazaro; J, Vissing; S, Coppens; N, Deconinck; HM, Luk; NH, Thomas; NC, Foulds; MA, Illingworth; S, Ellard; CA, McLean; R, Phadke; G, Ravenscroft; N, Witting; P, Hackman; I, Richard; ST, Cooper; EJ, Kamsteeg; EP, Hoffman; K, Bushby; V, Straub; B, Udd; A, Ferreiro; KN, North; NF, Clarke; M, Lek; AH, Beggs; CG, Bönnemann; DG, MacArthur; H, Granzier; MR, Davis; NG, Laing

doi:10.1002/ana.25241

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Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Shared by NobleBlocks on Jun 1, 2018 • 12:00 AM UTC

Authors:

Oates EC

Jones KJ

Donkervoort S

Abstract

Objective Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder.Methods Using massively parallel sequencing we identified 30 patients from 27 families with 2 pathogenic nonsense, frameshift and/or splice site TTN ...

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