Nguyen K V, Østergaard E, Ravn S Holst, Balslev T, Danielsen E Rubaek, Vardag A, McKiernan P J, Gray G, Naviaux R K
Mitochondrial and Metabolic Disease Center, Department of Medicine, University of California, San Diego, CA, USA.
Neurology. 2005 Nov 8;65(9):1493-5. doi: 10.1212/01.wnl.0000182814.55361.70. Epub 2005 Sep 21.
Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following combinations of POLG mutations: 1) A467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T/A467T, and 4) A467T/G848S. Homozygosity for the A467T allele in one patient was associated with a later age at onset. Mitochondrial respiratory chain studies in skeletal muscle were normal in each case. Nine combinations of mutant POLG alleles that cause Alpers syndrome are summarized.
本文描述了来自四个无血缘关系家庭的六例阿尔珀斯综合征患者。受影响个体携带以下POLG基因突变组合：1）A467T/W1020X，2）W748S-E1143G/G848S，3）A467T/A467T，以及4）A467T/G848S。一名患者中A467T等位基因的纯合性与发病年龄较晚有关。每例患者骨骼肌的线粒体呼吸链研究均正常。总结了导致阿尔珀斯综合征的九种突变POLG等位基因组合。
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