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%. The gene discussed is ATP5MK; the disease is multiple mitochondrial dysfunctions syndrome 4.