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Article

Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.

Journal of medical genetics - 1 Sept 2020

Rodríguez-López Claudia, García-Cárdaba Luis M, Blázquez Alberto, Serrano-Lorenzo Pablo, Gutiérrez-Gutiérrez Gerardo, San Millán-Tejado Beatriz, Muelas Nuria, Hernández-Laín Aurelio, Vílchez Juan J, Gutiérrez-Rivas Eduardo, Arenas Joaquín, Martín Miguel A, Domínguez-González Cristina

Abstract excerpt

BACKGROUND: Mitochondrial progressive external ophthalmoplegia (PEO) encompasses a broad spectrum of clinical and genetic disorders. We describe the phenotypic subtypes of PEO and its correlation with molecular defects and propose a diagnostic algorithm. METHODS: Retrospective analysis of the clinical, pathological and genetic features of 89 cases. RESULTS: Three main phenotypes were found: 'pure PEO' (42%),...

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PMID: 32161153
DOI: 10.1136/jmedgenet-2019-106649

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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