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

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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2554597391

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

About this item

Full title

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

Publisher

San Francisco: Public Library of Science

Journal title

PloS one, 2021-07, Vol.16 (7), p.e0255011-e0255011

Language

English

Formats

Publication information

Publisher

San Francisco: Public Library of Science

More information

Scope and Contents

Contents

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 f...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_2554597391

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2554597391

Other Identifiers

ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0255011

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