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.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 98 - 105 (8page)
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초록· 키워드
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Purpose: The disease entity mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is characterizedby an early onset of stroke-like episodes. MELAS is the most dominant subtype of mitochondrial disease. Molecular genetictesting is important in the diagnosis of MELAS. The mitochondrial DNA (mtDNA) 3243A>G mutation is found in 80% of MELASpatients. Nevertheless, molecular analysis alone may be insufficient to diagnose MELAS because of mtDNA heteroplasmy. Thisstudy aimed to evaluate whether muscle biopsy is useful in MELAS patients as an initial diagnostic evaluation method. Materials and Methods: The medical records of patients who were diagnosed with MELAS at the Department of Pediatrics ofGangnam Severance Hospital between January 2006 and January 2017 were reviewed. The study population included 12 patients. They were divided into two subgroups according to whether the results of muscle pathology were in accordance with mitochondrialdiseases. Clinical variables, diagnostic evaluations, and clinical outcomes were compared between the two groups. Results: Of the 12 patients, seven were muscle pathology-positive for mitochondrial disease. No statistically significant differencein clinical data was observed between the groups that were muscle pathology-positive and muscle pathology-negative for mtDNA3243A>G mutation. Additionally, the patients with weakness as the initial symptom were all muscle pathology-positive. Conclusion: The usefulness of muscle biopsy appears to be limited to an initial confirmative diagnostic evaluation of MELAS. Muscle biopsy can provide some information in MELAS patients with weakness not confirmed by genetic testing.
목차
등록된 정보가 없습니다.
참고문헌 (22)
참고문헌 신청
Zeviani M / 2004 / Mitochondrial disorders / Brain 127(Pt 10):2153~2172
Yatsuga S / 2012 / MELAS : a nationwide prospective cohort study of 96 patients in Japan / Biochim Biophys Acta 1820:619~624
Goto Y / 1992 / Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation / Neurology 42(3Pt 1):545~550
Pavlakis SG / 1984 / Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes : a distinctive clinical syndrome / Ann Neurol 16:481~488
Goto Y / 1990 / A mutation in the tRNA(Leu)(UUR)gene associated with the MELAS subgroup of mitochondrial encephalomyopathies / Nature 348:651~653
Yatsuga S / 2012 / MELAS : a nationwide prospective cohort study of 96 patients in Japan / Biochim Biophys Acta 1820:619~624
Goto Y / 1992 / Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation / Neurology 42(3Pt 1):545~550
Pavlakis SG / 1984 / Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes : a distinctive clinical syndrome / Ann Neurol 16:481~488
Goto Y / 1990 / A mutation in the tRNA(Leu)(UUR)gene associated with the MELAS subgroup of mitochondrial encephalomyopathies / Nature 348:651~653
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