The case of a middle-aged woman with early-onset diabetes mellitus, hypertrophic cardiomyopathy, premature sensorineural hearing loss and neuropsychiatric symptoms is described. The patient's family history revealed the classical pattern of maternally inherited diabetes and deafness (MIDD) and isolation of mitochondrial DNA from peripheral blood leucocytes showed an A3243G transition in the gene encoding for the tRNALeu(UUR). Thus, the suspected diagnosis of a mitochondrial disorder was confirmed. Cardiac involvement turned out to be the dominating clinical feature in the patient. She died of cardiogenic shock and multiple organ failure within 1 year of diagnosis. Three out of nine affected family members had hypertrophic cardiomyopathy.
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Competing interests None.
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