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Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
Lee, Jin Sook; Yoo, Taekyeong; Lee, Moses; Lee, Youngha; Jeon, Eunyoung; Kim, Soo Yeon; Lim, Byung Chan; Kim, Ki Joong; Choi, Murim; Chae, Jong-Hee.
Afiliación
  • Lee JS; Department of Pediatrics, Department of Genome Medicine and Science, Gil Medical Center, Gachon University College of Medicine, Incheon, Korea.
  • Yoo T; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
  • Lee M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
  • Lee Y; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
  • Jeon E; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
  • Kim SY; Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Lim BC; Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Kim KJ; Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
  • Chae JH; Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
Clin Genet ; 97(4): 586-594, 2020 04.
Article en En | MEDLINE | ID: mdl-32020600
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas / Enfermedad de Leigh / Heterogeneidad Genética / Racemasas y Epimerasas / Enfermedades Mitocondriales Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas / Enfermedad de Leigh / Heterogeneidad Genética / Racemasas y Epimerasas / Enfermedades Mitocondriales Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Año: 2020 Tipo del documento: Article