Category: therapeutics

A female patient was diagnosed with sensorineural deafness aged 37. She then presented at the age of 45 years with a progressive cerebellar syndrome. Blood DNA analysis detected a nucleotide 3243 A–>G mutation in the mitochondrial DNA confirming a diagnosis of Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like episodes (MELAS). At the age of 48…