Mitochondrial Muscle Pathology

Summary The diagnosis of mitochondrial disease is challenging and requires a multidisciplinary approach for investigation. Despite the complexity, a specific diagnosis can be achieved in many cases. A specific diagnosis may provide prognostic information for the patient and the option of prenatal testing for the family in a subsequent pregnancy. the case reports in this section nicely illustrate several common pediatric clinical presentations of mitochondrial disease and a systematic approach to investigation.