The resulting syndromes varied, with the most common being multiple mitochondrial dysfunction syndrome 4 (ISCA2) in 13.8%, achalasia addisonian alacrima syndrome (AAAS) in 8.6%, and mitochondrial complex I, III, V, or IV syndromes (TMEM70, MT-ND5, and ATP5MD, among others) in 12.9%. Here, TMEM70 is linked to achalasia-alacrima syndrome.