Article

In vitro splice-switching oligonucleotide rescues aberrant <i>GFM2</i> pseudoexon inclusion and restores mitochondrial activity

2026-06-01

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Biallelic variants in GFM2, encoding mitochondrial elongation factor G2 (mtEFG2), a GTPase involved in the termination stage of mitochondrial translation, cause autosomal recessive combined oxidative phosphorylation deficiency. Noncoding structural variants may be missed by exome sequencing but can disrupt splicing and provide opportunities for variant-specific therapeutic...

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Literature Corpus work: 4311f20f-e02e-52a2-aeb5-10972aed93d6
DOI: 10.64898/2026.05.28.26354078

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