PS2 - 8. MIDD or MELAS: that’s not the question. a severe clinical phenotype of the m.3243A>G mutation

MIDD (Maternally Inherited Diabetes and Deafness) and MELAS (Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like episodes) are related syndromes both associated with the m.3243A>G mutation. A patient with this mutation, previously diagnosed with MIDD, is described who showed two remarkable clinical features: severe insulin resistance and the development of MELAS over time.