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Null variants in DYSF result in earlier symptom onset.
Park, Hyung Jun; Hong, Young Bin; Hong, Ji-Man; Yun, UnKyu; Kim, Seung Woo; Shin, Ha Young; Kim, Seung Min; Choi, Young-Chul.
Afiliación
  • Park HJ; Department of Neurology, Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
  • Hong YB; Department of Biochemistry, College of Medicine, Dong-A University, Busan, South Korea.
  • Hong JM; Department of Neurology, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin, South Korea.
  • Yun U; Department of Neurology, Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
  • Kim SW; Department of Neurology, Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
  • Shin HY; Department of Neurology, Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
  • Kim SM; Department of Neurology, Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
  • Choi YC; Department of Neurology, Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
Clin Genet ; 99(3): 396-406, 2021 03.
Article en En | MEDLINE | ID: mdl-33215690
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Atrofia Muscular / Miopatías Distales / Distrofia Muscular de Cinturas / Disferlina / Mutación con Pérdida de Función Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: Corea del Sur
Texto completo
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PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Atrofia Muscular / Miopatías Distales / Distrofia Muscular de Cinturas / Disferlina / Mutación con Pérdida de Función Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: Corea del Sur