MELAS AİLESİ: Klinik - Genetik Korelasyon

Abstract

MELAS (Mitochondrial Encephalopathy Lactic Acidosis and Stroke like episodes) is a multisystemic muscle disease. Clinical findings are presented with myopathy, eye findings, sensorineural hearing loss, epilepsy, headache, stroke, endocrinopathies. The mutations responsible for the disease are A3243G, T3271C, C3093G, A3252G, C3256T, A3260G, T3291C, T3308C, A13514G, respectively. In this article, six patients with MELAS from a family with different symptoms A3243G mutation are presented to draw attention to the clinical manifestations of the disease.