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A novel bi-allelic variant in the SDHB gene causes a severe mitochondrial complex II deficiency: a case report.
Ece Solmaz, Asli; Pariltay, Erhan; Talim, Beril; Onay, Huseyin.
Affiliation
  • Ece Solmaz A; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey. Electronic address: as_ece@hotmail.com.
  • Pariltay E; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey.
  • Talim B; Pediatric Pathology Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Onay H; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey.
Clin Neurol Neurosurg ; 212: 107039, 2022 01.
Article in En | MEDLINE | ID: mdl-34839152
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Succinate Dehydrogenase / Mitochondrial Diseases / Electron Transport Complex II / Metabolism, Inborn Errors Type of study: Etiology_studies Limits: Humans / Male / Newborn Language: En Journal: Clin Neurol Neurosurg Year: 2022 Document type: Article Country of publication: Netherlands
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Succinate Dehydrogenase / Mitochondrial Diseases / Electron Transport Complex II / Metabolism, Inborn Errors Type of study: Etiology_studies Limits: Humans / Male / Newborn Language: En Journal: Clin Neurol Neurosurg Year: 2022 Document type: Article Country of publication: Netherlands