MELAS family

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

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

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 44
  • Basım Tarihi: 2019
  • Dergi Adı: CUKUROVA MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.47-51
  • Çukurova Üniversitesi Adresli: Evet

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.