Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

• المؤلفون الرئيسيون: Elsebet Ostergaard, Woranontee Weraarpachai, Kirstine Ravn, Alfred Peter Born, Lars Jønson, Morten Duno, Flemming Wibrand, Eric A. Shoubridge, John Vissing
• التنسيق: دورية
• منشور في: 2018
• الموضوعات: Biochemistry, Genetics and Molecular Biology; Medicine
• الوصول للمادة أونلاين: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84930667639&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/54211
• المؤسسة: Chiang Mai University

Background: We investigated a subject with an isolated cytochrome c oxidase (COX) deficiency presenting with an unusual phenotype characterised by neuropathy, exercise intolerance, obesity, and short stature. Methods and results: Blue-native polyacrylamide gel electrophoresis (BN-PAGE) analysis show...