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Article

Deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy.

Journal of human genetics - 1 Jul 2016

Nakamura Akinori, Fueki Noboru, Shiba Naoko, Motoki Hirohiko, Miyazaki Daigo, Nishizawa Hitomi, Echigoya Yusuke, Yokota Toshifumi, Aoki Yoshitsugu, Takeda Shin'ichi

Abstract excerpt

Few cases of dystrophinopathy show an asymptomatic phenotype with mutations in the 5' (exons 3-7) hot spot in the Duchenne muscular dystrophy (DMD) gene. Our patient showed increased serum creatine kinase levels at 12 years of age. A muscle biopsy at 15 years of age led to a diagnosis of Becker muscular dystrophy. The patient showed a slight decrease in cardiac function at the age of 21 years and was administered...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophy, Duchenne

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Source

Identifiers

PMID: 27009627
DOI: 10.1038/jhg.2016.28

Genes

DMD

Provenance

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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