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Article

Do carriers of POLG mutation W748S have disease manifestations?

Clinical genetics - 1 Dec 2007

Rantamäki M, Luoma P, Virta J J, Rinne J O, Paetau A, Suomalainen A, Udd B

Abstract excerpt

Mitochondrial recessive ataxia syndrome (MIRAS) is a common cause of autosomal recessive juvenile- or adult-onset ataxia, at least in Scandinavia. MIRAS patients are homozygous or compound heterozygous for POLG mutations W748S and A467T. Because many first-degree relatives of MIRAS patients in th...

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Source

Identifiers

PMID: 17894835
DOI: 10.1111/j.1399-0004.2007.00908.x

Genes

POLG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17894835-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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