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Defective complex III mitochondrial respiratory chain due to a novel variant in CYC1 gene masquerades acute demyelinating syndrome or Leber hereditary optic neuropathy.
Heidari, Erfan; Rasoulinezhad, Maryam; Pak, Neda; Reza Ashrafi, Mahmoud; Heidari, Morteza; Banwell, Brenda; Garshasbi, Masoud; Reza Tavasoli, Ali.
Afiliación
  • Heidari E; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
  • Rasoulinezhad M; Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
  • Pak N; Pediatric Radiology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
  • Reza Ashrafi M; Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
  • Heidari M; Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
  • Banwell B; Division of Child Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Garshasbi M; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
  • Reza Tavasoli A; Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. Electronic address: a_tavasoli@sina.tums.ac.ir.
Mitochondrion ; 60: 12-20, 2021 09.
Article en En | MEDLINE | ID: mdl-34252606
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Complejo III de Transporte de Electrones / Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias / Atrofia Óptica Hereditaria de Leber Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans Idioma: En Revista: Mitochondrion Año: 2021 Tipo del documento: Article País de afiliación: Irán
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Complejo III de Transporte de Electrones / Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias / Atrofia Óptica Hereditaria de Leber Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans Idioma: En Revista: Mitochondrion Año: 2021 Tipo del documento: Article País de afiliación: Irán