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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| Main Authors: | , , , , , , , , |
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| Format: | Journal |
| Published: |
2018
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| Subjects: | |
| Online Access: | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84930667639&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/44893 |
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| Institution: | Chiang Mai University |