Consistently, many LS-associated amino acid changes cluster in repeats 14 and 15 of the filamin B protein [15, 16, 24], including the most common FLNB mutation, p.(Gly1722Ser) (p.(Gly1691Ser) according to NM_001457.3), which has been identified in patient 2 of our cohort. Here, FLNB is linked to Leigh syndrome.