Mitochondriale chronisch progressive externe ophthalmoplegie: Variabilität der genotyp-phänotyp-beziehung

Chronic progressive external ophthalmoplegia (CPEO) was first described more than 100 years ago and it is the most common type of mitochondrial disorders. Molecular genetic investigations can show single deletions, multiple deletions or point mutations. Single deletions are mostly sporadic. Multiple deletions rise in cause of a nuclear gene defect and autosomal recessive or dominant inheritance is possible. Point mutations follow a maternal inheritance, this means they will pass from the mother to the next generation. Phenotypically there is a high variability and often overlap to other mitochondrial disorders. Sometimes there is a good correlation between genotype and phenotype, but this is not in every case clear.