지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
초록· 키워드
오류제보하기
저자들은 정신지체, 발작성 두통, 의식 소실, 소뇌 위축에의한 운동실조 등 여러 신경학적 이상 증상 및 WPW 증후군으로 치료 중이던 환자가 갑자기 발생한 고혈당에 대한 검사 결과 제1형 당뇨병의 임상 양상을 보여 MELAS 증후군을의심하였고, 분자유전학적 검사를 통해 A3243G 사립체 유전자 점 돌연변이를 확인하였기에 이를 보고하는 바이다.
목차
등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Finsterer J / 2008 / Cognitive decline as a manifestation of mitochondrial disorders (mitochondrial dementia) / J Neurol Sci 272 : 20 ~ 33
Koga Y / 2010 / MELAS and L-arginine therapy: pathophysiology of stroke-like episodes / Ann N Y Acad Sci 1201 : 104 ~ 110
Lee WJ / 2001 / Islet cell autoimmunity and mitochondrial DNA mutation in Korean subjects with typical and atypical Type I diabetes / Diabetologia 44 : 2187 ~ 2191
Mehrazin M / 2009 / Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS / Am J Med Genet A 149A : 584 ~ 587
Pavlakis SG / 1984 / Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome / Ann Neurol 16 : 481 ~ 488
Koga Y / 2010 / MELAS and L-arginine therapy: pathophysiology of stroke-like episodes / Ann N Y Acad Sci 1201 : 104 ~ 110
Lee WJ / 2001 / Islet cell autoimmunity and mitochondrial DNA mutation in Korean subjects with typical and atypical Type I diabetes / Diabetologia 44 : 2187 ~ 2191
Mehrazin M / 2009 / Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS / Am J Med Genet A 149A : 584 ~ 587
Pavlakis SG / 1984 / Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome / Ann Neurol 16 : 481 ~ 488
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