Genotype-phenotype correlations in recessive titinopathies.
Marco SavareseAnna ViholaEmily C OatesRita BarresiChiara FiorilloGiorgio TascaManu JokelaAnna SarkozySushan LuoJordi Díaz-ManeraChristoffer EhrstedtRicardo Rojas-GarcíaAmets SáenzNuria MuelasFortunato LonardoHeidi FodstadTalha QureshiMridul JohariSalla VälipakkaHelena LuquePhilippe PetiotAdolfo López de MunainMarika PaneEugenio MercuriAnnalaura TorellaVincenzo NigroGuja AstreaFilippo Maria SantorelliClaudio BrunoThierry KuntzerIsabel IllaJuan J VílchezCedric JulienAna FerreiroAlessandro MalandriniChong-Bo ZhaoOlivera Casar-BorotaMark DavisFrancesco MuntoniPeter HackmanBjarne UddPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Our findings suggest a novel association between the location of nonsense variants and the clinical severity of the disease.