Based on investigations of mitochondrial dysfunction it is evident that aberrant ANT1 activity causes human disease, certainly as a result of diminished activity—as in autosomal dominant progressive external ophthalmoplegia (adPEO) and Senger’s syndrome—and possibly also due to its overexpression in facioscapulohumeral muscular dystrophy (FSHD) [110]. Here, PRPF6 is linked to facioscapulohumeral muscular dystrophy.