Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion.
Javier Poyatos-GarcíaPilar MartíAlessandro LiquoriNuria MuelasInmaculada Pitarch CastellanoLuis Martínez DolzBenjamin RodríguezLidia Gonzalez-QueredaMaria DamiáElena AllerMarta Selva-GimenezRoger VilchezJordi Díaz-ManeraJorge Alonso-PérezJosé Eulalio BarcenaAmaia JaureguiJosep GamezJesus Angel AladrénAriadna FernándezMarisol MontolioInmaculada AzorinAntonio José Cañada-MartínezAna CasasúsMarisa NietoPia GallanoTeresa SevillaJuan Jesus VilchezPublished in: Annals of neurology (2022)
We confirmed that del45-55 segregates a high proportion of benign phenotypes, severe cases, and isolated cardiac and cognitive presentations. Although some influence of the intronic breakpoint position and the LTBP4 modifier may exist, the pathomechanisms responsible for the phenotypic variability remain largely unresolved. ANN NEUROL 2022;92:793-806.