Autosomal recessive progressive external ophthalmoplegia-6 (PEOB6) is characterized by ptosis and ophthalmoplegia as well as other clinical manifestations and multiple mtDNA deletions in muscle (Shintaku et al., 2022).
For a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (258450). [from
OMIM]