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Article

Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene.

International journal of molecular sciences - 29 Aug 2022

Magri Francesca, Zanotti Simona, Salani Sabrina, Fortunato Francesco, Ciscato Patrizia, Gerevini Simonetta, Maggi Lorenzo, Sciacco Monica, Moggio Maurizio, Corti Stefania, Bresolin Nereo, Comi Giacomo Pietro, Ronchi Dario

Abstract excerpt

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 SGCB and features pediatric onset with limb-girdle involvement, often complicated by respiratory and heart dysfunction. Here we describe a patient...

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Identifiers

PMID: 36077211
DOI: 10.3390/ijms23179817
PMCID: PMC9456520

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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