线粒体DNA
遗传学
共济失调
突变
生物
复合杂合度
基因
聚合酶
神经科学
作者
Guido Davidzon,Michelangelo Mancuso,Silvio Ferraris,Catarina M. Quinzii,Michio Hirano,Heidi Peters,Denise M. Kirby,David R. Thorburn,Salvatore DiMauro
摘要
Abstract Alpers–Huttenlocher syndrome (AHS) an autosomal recessive hepatocerebral syndrome of early onset, has been associated with mitochondrial DNA (mtDNA) depletion and mutations in polymerase gamma gene ( POLG ). We have identified POLG mutations in four patients with hepatocerebral syndrome and mtDNA depletion in liver, who fulfilled criteria for AHS. All were compound heterozygous for the G848S and W748S mutations, previously reported in patients with progressive external ophtalmoplegia or ataxia. We conclude that AHS should be included in the clinical spectrum of mtDNA depletion and is often associated with POLG mutations, which can cause either multiple mtDNA deletions or mtDNA depletion. Ann Neurol 2005;57:921–924
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