Behr’s syndrome is typically associated with disturbed mitochondrial translation and mutations in the C12orf65 gene

Angela Pyle, Venkateswaran Ramesh, Marina Bartsakoulia, Veronika Boczonadi, Aurora Gomez-Duran, Agnes Herczegfalvi, Emma L. Blakely, Tania Smertenko, Jennifer Duff, Gail Eglon, David Moore, Patrick Yu Wai Man, Konstantinos Douroudis, Mauro Santibanez-Koref, Helen Griffin, Hanns Lochmüller, Veronika Karcagi, Robert W. Taylor, Patrick F. Chinnery*, Rita Horvath

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

25 Citations (Scopus)

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Medicine and Dentistry

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Biochemistry, Genetics and Molecular Biology