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

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

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.

Afiliación

Yun U; Department of Neurology, Bucheon Sejong Hospital, Bucheon, Korea.
Lee SA; Department of Neurology, Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Choi WA; Department of Rehabilitation, Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Kang SW; Department of Rehabilitation, Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Seo GH; Division of Medical Genetics, 3billion, Inc. Seoul, Republic of Korea.
Lee JH; Department of Neurology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Park G; Biostatistics Collaboration Unit, Yonsei University College of Medicine, Seoul, Republic of Korea.
Lee S; Biostatistics Collaboration Unit, Yonsei University College of Medicine, Seoul, Republic of Korea.
Choi YC; Department of Neurology, Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Park HJ; Department of Neurology, Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.

PLoS One ; 16(7): e0255011, 2021.

Article en En | MEDLINE | ID: mdl-34297739

Asunto(s)

Distrofias Musculares/genética; Mutación; Fenotipo; Adolescente; Niño; Femenino; Frecuencia de los Genes; Humanos; Masculino; Músculo Esquelético/fisiopatología; Distrofias Musculares/clasificación; Distrofias Musculares/patología; República de Corea; Adulto Joven

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Distrofias Musculares / Mutación Tipo de estudio: Guideline Límite: Adolescent / Adult / Child / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2021 Tipo del documento: Article

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