Article

Adenine base editing correction of <i>LMNA</i> c.745C>T (p.R249W) in congenital muscular dystrophy myoblasts improves cellular phenotype while revealing deleterious p.L248P bystander effects

2026-08-04

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> LMNA -related congenital muscular dystrophy (L-CMD) is a rare, life-threatening genetic disorder caused by point mutations in the LMNA gene, for which no effective treatment currently exists. It is characterized by early-onset muscle weakness, dropped-head syndrome, hypotonia, cardiac complications, and restrictive lung disease, frequently leading to premature death. The L...

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Literature Corpus work: 2b43fe17-9c91-519a-ba67-f9dfb788f796
DOI: 10.64898/2026.08.03.742539

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Adenine base editing correction of <i>LMNA</i> c.745C>T (p.R249W) in congenital muscular dystrophy myoblasts improves cellular phenotype while revealing deleterious p.L248P bystander effectsDOI 10.64898/2026.08.03.742539Read

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