A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome.

导出 LinkOut

翻译打印收藏纠错

作者： Patrick,Mordel ^[1] ; Stéphane,Schaeffer ^[2] ; Quentin,Dupas ^[1] ; Marie-Alice,Laville ^[3] ; Marion,Gérard ^[4] ; Françoise,Chapon ^[5] ; S,Allouche ^[6]

作者单位： Normandie Univ, UNICAEN, CHU Caen, Signalisation, électrophysiologie et imagerie des lésions d'ischémie-reperfusion myocardique, Caen, F-14032, France. ^[1] CHU de Caen, Neuromuscular Competence Center, Caen, F-14032, France. ^[2] CHU de Caen, Department of ophthalmology, Caen, F-14032, France. ^[3] CHU de Caen, Department of medical genetics, Caen, F-14032, France. ^[4] CHU de Caen, Neuromuscular Competence Center, Caen, F-14032, France; CHU de Caen, Department of Pathology, Caen, F-14032, France. ^[5] Normandie Univ, UNICAEN, CHU Caen, Signalisation, électrophysiologie et imagerie des lésions d'ischémie-reperfusion myocardique, Caen, F-14032, France; CHU de Caen, Department of biochemistry, Caen, F-14032, France. Electronic address: allouche-s@chu-caen.fr. ^[6]

关键词 ATP6 deletion Complex V deficiency Mitochondrial disease NARP syndrome Next generation sequencing