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Journal of the Korean Academy of Rehabilitation Medicine 1996;20(4):35.
Two Case Reports of MELAS Syndrome
Young Jin Ko, M.D., Hye Won Kim, M.D., No Kyoung Park, M.D., Eun Jin Cho, M.D. , Sae Yoon Kang, M.D.
Department of Rehabilitation Medicine, The Catholic University of Korea
한 형제에서 발견된 MELAS 증후군 2예 -증례 보고-
고영진, 김혜원, 박노경, 조은진, 강세윤
가톨릭대학교 의과대학 재활의학교실
Abstract

MELAS syndrome(mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes) is a multisystem disorder characterized by short stature, vomiting, headache, cortical blindness, deafness and dementia. Point mutations of mitochondrial DNA is characteristic for this syndrome. It is inherited by maternal inheritance.

We reported two brothers who experienced MELAS syndrome with a mother whose symtom developed later.

Key Words: MELAS syndrome, Mitochondrial myopathy, Encephalopathy, Lactic acidosis, Stroke


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