Abstract
More than 30 mutations have been described in the human TWNK gene, which encodes the Twinkle mitochondrial replicative helicase. These mutations have heterogeneous clinical consequences, but generally affect the neurolocomotor system. Autosomal dominant progressive external ophthalmoplegia (adPEO), often caused by mutations in TWNK, is a late-onset neuromuscular disorder in which patients…