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Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant.

Human molecular genetics - 6 Apr 2023

Enkhjargal Sarantuya, Sugahara Kana, Khaledian Behnoush, Nagasaka Miwako, Inagaki Hidehito, Kurahashi Hiroki, Koshimizu Hisatsugu, Toda Tatsushi, Taniguchi-Ikeda Mariko

Abstract excerpt

Fukuyama congenital muscular dystrophy (FCMD) is an autosomal recessive disorder caused by fukutin (FKTN) gene mutations. FCMD is the second most common form of childhood muscular dystrophy in Japan, and the most patients possess a homozygous retrotransposal SINE-VNTR-Alu insertion in the 3'-untranslated region of FKTN. A deep-intronic variant (DIV) was previously identified as the second most prevalent...

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PMID: 36426838
DOI: 10.1093/hmg/ddac286

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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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