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

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 myopat...

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Autores principales: UnKyu Yun, Seung-Ah Lee, Won Ah Choi, Seong-Woong Kang, Go Hun Seo, Jung Hwan Lee, Goeun Park, Sujee Lee, Young-Chul Choi, Hyung Jun Park
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2021
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Acceso en línea:https://doaj.org/article/299248817ceb4427a87a729a47009b78
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