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Authors
- Amunts, Alexey
- Bugiardini, Enrico
- Hanna, Michael G
- Hargreaves, Iain
- Holt, Ian J
- Holton, Janice L
- Horning-Do, Hue-Tran
- Houlden, Henry
- Lynch, David S
- Matthews, Emma
- Mitchell, Alice L
- Morrow, Jasper M
- Parton, Matt
- Pitceathly, Robert D S
- Pitmann, Alan M
- Poole, Olivia V
- Quinlivan, Rosaline
- Reilly, Mary M
- Rosa, Ilaria Dalla
- Shah, Sachit
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Topics
- Adult
- Biomarkers
- Exome Sequencing
- Fibroblasts
- Genetic Predisposition to Disease
- Homozygote
- Humans
- Magnetic Resonance Imaging
- Male
- Mitochondria
- Mitochondrial Encephalomyopathies
- Mitochondrial Proteins
- Models, Biological
- Mutation
- Pedigree
- Phenotype
- Protein Biosynthesis
- Ribosomal Proteins
- diagnosis
- genetics
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