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Article

POLG1 variations presenting as multiple sclerosis.

Archives of neurology - 1 Sept 2010

Echaniz-Laguna Andoni, Chassagne Maïté, de Sèze Jérôme, Mohr Michel, Clerc-Renaud Pascale, Tranchant Christine, Mousson de Camaret Bénédicte

Abstract excerpt

OBJECTIVE: To describe 2 unrelated patients with novel variations in the POLG1 gene and features undistinguishable from multiple sclerosis, ie, optic neuritis, brain white matter hyperintense areas, and unmatched cerebrospinal fluid oligoclonal bands. DESIGN: Case report. SETTING: University hospital. Patients Both patients subsequently developed bilateral ophthalmoplegia, ptosis, myopathy, cardiomyopathy,...

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Source

Identifiers

PMID: 20837861
DOI: 10.1001/archneurol.2010.219

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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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