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Article

Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.

PloS one - 1 Jan 2021

Yun UnKyu, Lee Seung-Ah, Choi Won Ah, Kang Seong-Woong, Seo Go Hun, Lee Jung Hwan, Park Goeun, Lee Sujee, Choi Young-Chul, Park Hyung Jun

Abstract excerpt

Dystrophinopathy is a group of inherited phenotypes arising from pathogenic variants in DMD. We evaluated the clinical and genetic characteristics of Korean patients with genetically confirmed dystrophinopathy. We retrospectively reviewed medical records (January 2004-September 2020) from the myopathy database maintained at the study hospital and found 227 patients from 218 unrelated families with...

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Identifiers

PMID: 34297739
DOI: 10.1371/journal.pone.0255011
PMCID: PMC8301650

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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