J Genet Med.  2019 Jun;16(1):31-38. 10.5734/JGM.2019.16.1.31.

Twenty-one-year follow-up of variable onset MELAS syndrome with heteroplasmic nt3243A>G mtDNA mutation: A case report

  • 1KSZ Children's Hospital, Cheongju, Korea. kimgenee@naver.com
  • 2Korea Genetics Research Center, Cheongju, Korea.
  • 3Department of Pediatrics, Chungnam National University School of Medicine, Daejeon, Korea.
  • 4Department of Pathology, Chungnam National University School of Medicine, Daejeon, Korea.


Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder of which m.3243A>G is the most commonly associated mutation, resulting in an inability to meet the energy requirements of various organs. MELAS poses a diagnostic challenge owing to its multiple organ involvement and great clinical variability due to its heteroplasmic nature. We report three cases from a family who were initially misdiagnosed with myasthenia gravis or undiagnosed. Although there is no optimal consensus treatment approach for patients with MELAS because of the disease's heterogeneity, our 21-year-long therapy regimen of l-arginine, l-carnitine, and coenzyme Q10 supplementation combined with dietary management appeared to provide noticeable protection from the symptoms and complications. Prompt early diagnosis is important, as optimal multidisciplinary management and early intervention may improve outcomes.


MELAS syndrome; Myasthenia gravis; Lactic acidosis
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