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Article

Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.

Movement disorders : official journal of the Movement Disorder Society - 15 Jul 2008

Paus Sebastian, Zsurka Gabor, Baron Miriam, Deschauer Marcus, Bamberg Christian, Klockgether Thomas, Kunz Wolfram S, Kornblum Cornelia

Abstract excerpt

Patients harboring A467T and W748S POLG1 mutations present with a broad variety of neurological phenotypes, including cerebellar ataxia, progressive external ophthalmoplegia (PEO), myoclonus, epilepsy, and peripheral neuropathy. With exception of ataxia and myoclonus, movement disorders are not typical features of POLG1 associated disorders. We report on two affected siblings compound heterozygous for A467T and...

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PMID: 18546343
DOI: 10.1002/mds.22135

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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