MELAS AİLESİ: Klinik - Genetik Korelasyon
MELAS (Mitokondriyal Ensefalopati Laktik Asidoz Stroke Benzeri Epizodlar), multisistemik bir kas hastalığıdır. Klinik bulgular miyopati, göz bulguları, sensorinöral işitme kaybı, epilepsi, baş ağrısı, inme, endokrinopatiler ile prezente olur. Hastalıktan sorumlu mutasyonlar sıklık sırasına göre A3243G, T3271C, C3093G, A3252G, C3256T, A3260G, T3291C, T3308C, A13514G’dır. Bu makalede, farklı semptomlara sahip A3243G mutasyonu tespit edilen bir aileden altı MELAS’lı olgu, hastalığın klinik bulgularına dikkat çekilmek üzere sunulmuştur.
MELAS FAMILY: Clinical - Genetic Correlation
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.
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