MELAS family


Koc F., Gulec H. R. , Bisgin A.

CUKUROVA MEDICAL JOURNAL, cilt.44, ss.47-51, 2019 (ESCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 44
  • Basım Tarihi: 2019
  • Dergi Adı: CUKUROVA MEDICAL JOURNAL
  • Sayfa Sayıları: ss.47-51

Özet

MELAS (Mitochondrial Encephalopathy Lactic Acidosis Stroke-Like Episodes) is a multisystemic disease characterised by especially muscle weakness, eye findings, hearing loss, epilepsy, headache, stroke, endocrinopathy and various organ dysfunction, the mutations responsible for the disease are A3243G, T3271C, C3093G, A3252G, C3256T, A3260G, T3291C, T3308C, A13514G, respectively. In this article, A3243G mutation detected a large Melas family which have various symptoms is presented to draw attention to the clinical findings of the disease.