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

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

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...

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Bibliographic Details
Main Authors: Elsebet Ostergaard, Woranontee Weraarpachai, Kirstine Ravn, Alfred Peter Born, Lars Jønson, Morten Duno, Flemming Wibrand, Eric A. Shoubridge, John Vissing
Format: Journal
Published: 2018
Subjects:
Biochemistry, Genetics and Molecular Biology
Medicine
Online Access:https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84930667639&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/54211
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Institution: Chiang Mai University

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http://cmuir.cmu.ac.th/jspui/handle/6653943832/54211

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