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Article

POLG mutations in Alpers syndrome.

Neurology - 8 Nov 2005

Nguyen K V, Østergaard E, Ravn S Holst, Balslev T, Danielsen E Rubaek, Vardag A, McKiernan P J, Gray G, Naviaux R K

Abstract excerpt

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...

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Source

Identifiers

PMID: 16177225
DOI: 10.1212/01.wnl.0000182814.55361.70

Genes

POLG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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Related research

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