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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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8301650/
https://www.ncbi.nlm.nih.gov/pubmed/34297739
http://dx.doi.org/10.1371/journal.pone.0255011