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한상훈 ( Sang Hoon Han ),홍수진 ( Su Jin Hong ),박정호 ( Jeong Ho Park ),박선아 ( Sun Ah Park ),이준성 ( Joon Seong Lee ),이문성 ( Moon Sung Lee ),성기범 ( Ki Bum Sung ),심찬섭 ( Chan Sup Shim ) 대한소화기기능성질환·운동학회 2008 Journal of Neurogastroenterology and Motility (JNM Vol.14 No.1
Mitochondrial DNA disorder is a heterogenous group of diseases that is related to disorders of mitochondrial (mt) energy metabolism. MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episode) is a major maternally inherited multi-systemic disorder, in which 80% of cases are associated with mt DNA A3243G point mutation. The clinical course of MELAS is highly variable, ranging from asymptomatic to progressive muscle weakness, seizures, stroke-like episodes, encephalopathy with lactic acidosis and premature death. However, gastrointestinal symptoms in patients with MELAS are seldom documented. We report a 17-year-male with MELAS presenting chronic gastrointestinal pseudo-obstruction. We confirmed that he had the classical A3243G mt DNA point mutation.