Mavillard, FabiolaMadruga-Garrido, MarcosRivas, EloyServián-Morilla, EmiliaÁvila-Polo, RainieroMarcos, IreneMorón, Francisco JParadas, CarmenCabrera-Serrano, Macarena2023-02-082023-02-082019-10-14http://hdl.handle.net/10668/14778CAPN3 mutations cause a limb girdle muscular dystrophy. Functional characterization of novel mutations facilitates diagnosis of future cases. We have identified a novel (c.1992 + 2T>G) CAPN3 mutation that disrupts the donor splice site of intron 17 splicing out exon 17, with mRNA levels severely reduced or undetectable. The mutation induces a strong change in the 3D structure of the mRNA which supports no-go mRNA decay as the probable mechanism for RNA degradation. The mutation was identified in two unrelated Roma individuals showing a common ancestral origin and founder effect. This is the first Roma CAPN3 mutation to be reported.enAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/AdolescentCalpainChildFemaleFounder EffectHumansIntronsMaleMuscle ProteinsMuscular Dystrophies, Limb-GirdleMutationRNA SplicingRNA StabilityRomaresearch article31612648open access10.1002/acn3.509102328-9503PMC6856619https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/acn3.50910https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856619/pdf