Mitochondrial respiratory (MRC) disorders are a phenotypically and genetically diverse group of diseases which have an estimated incidence of 1 in 5000, and can manifest at any age with virtually any symptom. These disorders are generally progressive and multi-systemic, typically affecting organs with high energy demands, although potentially any organ can be affected. In view of their wide spectrum of clinical symptoms, together with their complex genetics, the diagnosis of these disorders presents a real challenge and usually requires a multidisciplinary approach involving clinical,...
Mitochondrial respiratory (MRC) disorders are a phenotypically and genetically diverse group of diseases which have an estimated incidence of 1 in 500...