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Phenotypic features depending on the affected protein domain. TWNK protein representation showing the distribution of the mutations identified in our cohort along the domains of the protein and the number of patients presenting PEO (blue) or PEO-plus (orange) phenotype for each variant. PEO: progressive external ophthalmoplegia. MTS: mitochondrial targeting sequence. Numbers on the TWNK protein denote the aminoacidic residue delimiting the domains.
