Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report.

导出 OA

翻译打印收藏纠错

第一作者： Ashraf,Yahia

第一单位： Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.

作者： Ashraf,Yahia ^[1] ; Liena,Elsayed ^[2] ; Arwa,Babai ^[3] ; Mustafa A,Salih ^[4] ; Sarah Misbah,El-Sadig ^[5] ; Mutaz,Amin ^[6] ; Mahmoud,Koko ^[7] ; Rayan,Abubakr ^[8] ; Razaz,Idris ^[1] ; Shaimaa Omer M A,Taha ^[9] ; Salah A,Elmalik ^[5] ; Alexis,Brice ^[5] ; Ammar Eltahir,Ahmed ^[10] ; Giovanni,Stevanin ^[11]

作者单位： Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan. ^[1] Department of Biochemistry, Faculty of Medicine, National University, Khartoum, Sudan. ^[2] Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités UMR_S1127, 75013, Paris, France. ^[3] Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan. doctorlbo@hotmail.com. ^[4] Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan. ^[5] Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia. ^[6] Department of Medicine, Faculty of Medicine, University of Khartoum, Khartoum, Sudan. ^[7] Department of Neurology, Soba University Hospital, Khartoum, Sudan. ^[8] Department of Neurology & Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. ^[9] Department of Radiology, Dar Al Elaj specialized hospital, Khartoum, Sudan. ^[10] Department of Physiology, College of Medicine, King Saud University, Riyadh, Saudi Arabia. ^[11] Department of Genetics, APHP, Pitié-Salpêtrière Hospital, Paris, France. ^[12] Department of Physiology, Faculty of Medicine, University of Khartoum, Khartoum, Sudan. ^[13] Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, Paris, France. ^[14]

关键词 Africa Clinico-radiological dissociation DARS2 Intra-familial phenotypic heterogeneity LBSL