Alpers综合征的POLG突变  

POLG mutations in Alpers syndrome

作　　者：Nguyen K.V фstergaard E. Holst Ravn S. R.K. Naviaux 陈海 

机构地区：[1]Mitochondrial and Metabolic Disease Center, MC8467, 214 Dickinson St., San Diego, CA 92103-2071, United States

出　　处：《世界核心医学期刊文摘（神经病学分册）》2006年第3期32-32,共1页Digest of the World Core Medical Journals:Clinical Neurology

摘　　要：Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following combinations of POLG mutations: 1) A 467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T/A467T, and 4)A467T/G848S. Homozygo sity for the A467T allele in one patient was associated with a later age at onse t. Mitochondrial respiratory chain studies in skeletal muscle were normal in eac h case. Nine combinations of mutant POLG alleles that cause Alpers syndrome are summarized.Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following combinations of POLG mutations: 1) A 467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T/A467T, and 4)A467T/G848S. Homozygo sity for the A467T allele in one patient was associated with a later age at onse t. Mitochondrial respiratory chain studies in skeletal muscle were normal in eac h case. Nine combinations of mutant POLG alleles that cause Alpers syndrome are summarized.

关 键 词：POLG 等位基因纯合子 骨骼肌线粒体 突变型 呼吸链 发病年龄 

分 类 号：R741[医药卫生—神经病学与精神病学]