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Article

Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism.

Nature medicine - 1 Aug 2017

Kemaladewi Dwi U, Maino Eleonora, Hyatt Elzbieta, Hou Huayun, Ding Maylynn, Place Kara M, Zhu Xinyi, Bassi Prabhpreet, Baghestani Zahra, Deshwar Amit G, Merico Daniele, Xiong Hui Y, Frey Brendan J, Wilson Michael D, Ivakine Evgueni A, Cohn Ronald D

Abstract excerpt

Splice-site defects account for about 10% of pathogenic mutations that cause Mendelian diseases. Prevalence is higher in neuromuscular disorders (NMDs), owing to the unusually large size and multi-exonic nature of genes encoding muscle structural proteins. Therapeutic genome editing to correct disease-causing splice-site mutations has been accomplished only through the homology-directed repair pathway, which is...

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PMID: 28714989
DOI: 10.1038/nm.4367

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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