MITOCHONDRIAL DISEASES (Posters)

Mitochondrial diseases are a clinically heterogeneous group of disorders caused by dysfunction of the mitochondrial respiratory chain. Some mitochondrial disorders affect a single organ, while many involve multiple systems such as skeletal muscle, brain, heart and liver, leading to diagnostic difficulties. Here we present three patients who were originally suspected to have a primary disease of skeletal muscle, leukodystrophy and brain malformation. Patients were recruited from three paediatric neurology clinics in Turkey: Izmir, Malatya and Diyarbakir.

Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: A. Topf, Y. Oktay, S. Balaraju, E. Y ılmaz, E. Sönmezler, A. Yaramis, S. Güngör, S. Laurie, S. Beltran, I. Gut, H. Lochmüller, S. Hiz, R. Horvath Source Type: research