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J Korean Neurol Assoc. 2004 Oct;22(5):545-547. Korean. Case Report.
Kang JW , Kim JC , Cho PZ , Cho JH , Kim SM , Sunwoo IN .
Department of Neurology, National Medical Center, Seoul, Korea.
Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. sunwooin@yumc.yonsei.ac.kr
Abstract

Leigh syndrome (LS) is a genetically and clinically heterogeneous disorder caused by metabolic defects affecting lactate/pyruvate metabolism. The consequence of the metabolic defects are decreased amounts of APT and basic cell energy productions of the nervous system. In LS, several mutations have been reported in both the nuclear and the mitochondrial genome. Here, we report a 26-year-old woman clinically diagnosed with LS having characteristic brain MR and MRS abnormalities but without known definite pathogenetic mitochondrial DNA mutations.

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