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Ann Neurol. 2005 Jun;57(6):921-3.

POLG mutations and Alpers syndrome.

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1
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.

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.

PMID:
15929042
DOI:
10.1002/ana.20498
[Indexed for MEDLINE]
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