Journal
INTERNAL MEDICINE
Volume 56, Issue 1, Pages 95-99Publisher
JAPAN SOC INTERNAL MEDICINE
DOI: 10.2169/internalmedicine.56.7301
Keywords
MELAS; stroke-like episodes; MT-ND3; adult onset; m.10158T > C mutation
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The clinical features of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) are not uniform. We herein report a male patient with unusual MELAS-like encephalopathy who had been experiencing isolated recurrent stroke-like episodes since he was 33 years old without any particular family history. Despite an extensive investigation, he had no other signs suggestive of MELAS. Although the muscle pathology showed a normal appearance, a mitochondrial genome sequence analysis of the biopsied muscle revealed a heteroplasmic m. 10158T>C mutation in the mitochondrial complex I subunit gene, MT-ND3. To prevented further deterioration of the higher brain function, the early diagnosis and treatment of mitochondrial stroke-like episodes is important.
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