biostudies-literatureMagri FMinistero della Salute9817https://www.ebi.ac.uk/biostudies/studies/S-EPMC9456520biostudies-literatureUnknown23(17)Limb-girdle muscular dystrophies (LGMD) are clinically and genetically heterogenous presentations displaying predominantly proximal muscle weakness due to the loss of skeletal muscle fibers. Beta-sarcoglycanopathy (LGMDR4) results from biallelic molecular defects in <i>SGCB</i> and features pediatric onset with limb-girdle involvement, often complicated by respiratory and heart dysfunction. Here we describe a patient who presented at the age of 12 years reporting high creatine kinase levels and onset of cramps after strenuous exercise. Instrumental investigations, including a muscle biopsy, pointed towards a diagnosis of beta-sarcoglycanopathy. NGS panel sequencing identified two variants in the <i>SGCB</i> gene, one of which (c.243+1548T&gt;C) was found to promote the inclusion of a pseudInternational journal of molecular sciencesAntisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the <i>SGCB</i> Gene.PMC9456520Current ResearchFortunato FMaggi LSalani SGerevini SZanotti SCorti SSciacco MMagri FBresolin NCiscato PComi GPRonchi DMoggio MfalseAntisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the <i>SGCB</i> Gene.Limb-girdle muscular dystrophies (LGMD) are clinically and genetically heterogenous presentations displaying predominantly proximal muscle weakness due to the loss of skeletal muscle fibers. Beta-sarcoglycanopathy (LGMDR4) results from biallelic molecular defects in <i>SGCB</i> and features pediatric onset with limb-girdle involvement, often complicated by respiratory and heart dysfunction. Here we describe a patient who presented at the age of 12 years reporting high creatine kinase levels and onset of cramps after strenuous exercise. Instrumental investigations, including a muscle biopsy, pointed towards a diagnosis of beta-sarcoglycanopathy. NGS panel sequencing identified two variants in the <i>SGCB</i> gene, one of which (c.243+1548T&gt;C) was found to promote the inclusion of a pseud2022-01-01T00:00:00Z2022 Aug2025-05-29T19:35:54.531Z2024-11-06T04:01:33.617ZS-EPMC94565203607721110.3390/ijms23179817