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Article

Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation.

JAMA neurology - 1 Nov 2013

Paradas Carmen, Camaño Pilar, Otaegui David, Oz Oguzhan, Emmanuele Valentina, DiMauro Salvatore, Hirano Michio

Abstract excerpt

IMPORTANCE: Autosomal dominant progressive external ophthalmoplegia due to PEO1 mutations is considered relatively benign, but no data about long-term progression of this disease have been reported. The aim of this study was to provide a 16-year clinical follow-up of autosomal dominant progressive external ophthalmoplegia due to the p.R357P gene mutation in PEO1. OBSERVATIONS: Twenty-two members of an...

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Identifiers

PMID: 24018892
DOI: 10.1001/jamaneurol.2013.3185
PMCID: PMC3973017

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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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