USP48 and External ophthalmoplegia: Among the 92 heterozygous P/LP variants, 3 have been reported of dominant genetic effects, including USP48 (ubiquitin specific peptidase 48)/NP_115612.4:p.Gly406Arg causing deafness, autosomal dominant 85; CAPN3 (calpain 3)/NP_000061.1:p.Arg490Trp causing muscular dystrophy, limb-girdle, autosomal dominant 4; POLG (DNA polymerase gamma, catalytic subunit)/NP_002684.1:p.Trp748Ser causing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.