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 Udd

Published 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.

Keyphrases

copy number
intellectual disability
muscular dystrophy
dna methylation
autism spectrum disorder