FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance

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作者： Mohammed Almannai ^[1] ; Julia Wang ^[2] ; Hongzheng Dai ^[3] ; Ayman W. El-Hattab ^[4] ; Eissa A. Faqeih ^[5] ; Mohammed A. Saleh ^[6] ; Ali Al Asmari ^[7] ; Ali H. Alwadei ^[8] ; Yaser I. Aljadhai ^[9] ; Amal AlHashem ^[10] ; Brahim Tabarki ; Matthew A. Lines ; Dorothy K. Grange ; Ruba Benini ; Abdulaziz S. Alsaman ; Adel Mahmoud ; Panagiotis Katsonis ; Olivier Lichtarge ; Lee-Jun C. Wong

作者单位： Medical Scientist Training Program and Program in Developmental Biology, Baylor College of Medicine ^[1] Department of Neuroimaging and Intervention, Medical Imaging Administration, King Fahad Medical City ^[2] Department of Molecular and Human Genetics, Baylor College of Medicine ^[3] Department of Pediatrics, Washington University School of Medicine ^[4] Department of Pediatric, Prince Sultan Medical Military City ^[5] Division of Metabolics and Newborn Screening, Children's Hospital of Eastern Ontario, Department of ^[6] Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City ^[7] Section of Medical Genetics, Children's Hospital, King Fahad Medical City ^[8] Division of Clinical Genetics and Metabolic Disorders, Pediatric Department, Tawam Hospital ^[9] Divisions of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City ^[10]

关键词 FARS2 Mitochondria Mitochondrial aminoacyl-tRNA synthetase Epileptic encephalopathy Spastic paraplegia

发布时间 2019-05-31

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