{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Magri F"],"funding":["Ministero della Salute"],"pagination":["9817"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9456520"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["23(17)"],"pubmed_abstract":["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 pseud"],"journal":["International journal of molecular sciences"],"pubmed_title":["Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the <i>SGCB</i> Gene."],"pmcid":["PMC9456520"],"funding_grant_id":["Current Research"],"pubmed_authors":["Fortunato F","Maggi L","Salani S","Gerevini S","Zanotti S","Corti S","Sciacco M","Magri F","Bresolin N","Ciscato P","Comi GP","Ronchi D","Moggio M"],"additional_accession":[]},"is_claimable":false,"name":"Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the <i>SGCB</i> Gene.","description":"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 pseud","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Aug","modification":"2025-05-29T19:35:54.531Z","creation":"2024-11-06T04:01:33.617Z"},"accession":"S-EPMC9456520","cross_references":{"pubmed":["36077211"],"doi":["10.3390/ijms23179817"]}}