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사립체 DNA 돌연변이가 확인된 MELAS 증후군 1례
신동선 외 중앙대학교 의과대학 의학연구소 2004 中央醫大誌 Vol.29 No.1·2
The term mitochondrial encephalomyopathy is reserved for disorders that usually cause multisystem diseases by mitochondrial dysfunction. The major organs affected are brain and skeletal muscle, but other tissues that require intact oxidative metabolism are affected frequently. MELAS appears to be the single most common mitochondrial disorder. Most cases result from a point mutation in the tRNA^(leu(UUR)) gene at position 3243 when adenine is replaced by guanine. We report a case of MELAS syndrome confirmed by typical clinical presentation and molecular gentetic diagnosis.