教学实验:人类基因聚合酶γ(POLG)障碍表现为难治性癫痫持续状态

Clinical Spectrum of POLG-Related Disorders Figure 2 is based on references 1 and 2. adPEO = autosomal dominant progressive external ophthalmoplegia; AHS = Alpers-Huttenlocher syndrome; arPEO = autosomal recessive progressive external ophthalmoplegia; C = chromosome; GI = gastrointestinal; MCHS = myocerebrohepatopathy; MNGIE = mitochondrial neurogastrointestinal encephalopathy; POLG = human polymerase gamma gene; TYMP = thymidine phosphorylase gene. *Same phenotype as mitochondrial neurogastrointestinal encephalopathy but without leukoencephalopathy. +Ptosis and ophthalmoplegia. ^Ptosis and ophthalmoplegia without systemic symptoms. #Also ataxia, depression, parkinsonism, hypogonadism, and cataracts.