Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Familiar chronic progressive external ophthalmoplegia of mitochondrial origin].

Revista de neurologia - 1 Jan 2000

Pineda M, Playán-Ariso A, Alcaine-Villarroya M J, Vernet A M, Serra-Castanera A, Solano A, Vilaseca M A, Artuch R, López-Pérez M, Briones-Godino M P, Andreu A, Montoya J

Abstract excerpt

INTRODUCTION: The syndrome of chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by ptosis and ophthalmoplegia has that has been associated to the presence of large deletion, single or multiple, in the mitochondrial DNA of skeletal muscle. CASE REPORT: We report a familiar case of chronic progressive external ophthalmoplegia of maternal inheritance that began at birth,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Disease Progression
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Infant

Share to Infant, Newborn

Share to Mitochondria, Muscle

Share to Muscle, Skeletal

Share to Ophthalmoplegia, Chronic Progressive External

Share to Sequence Deletion

Source

Identifiers

PMID: 15202078

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Familiar chronic progressive external ophthalmoplegia of mitochondrial origin].PMID 15202078Read ↗

[Familial mitochondrial chronic progressive external ophthalmoplegia. Five families with differing genetics].Semantic proximity Read ↗

Chronic Progressive External OphthalmoplegiaSemantic proximity Read ↗

Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings.Semantic proximity Read ↗

[Chronic progressive external ophthalmoplegia--symptom or syndrome?].Semantic proximity Read ↗

Mitochondrial Chronic Progressive External OphthalmoplegiaSemantic proximity Read ↗

[A familial case of chronic progressive external ophthalmoplegia associated with mitochondrial disease].Semantic proximity Read ↗

Late-onset mitochondrial disorder with electromyographic evidence of myotonia.Semantic proximity Read ↗

Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.Semantic proximity Read ↗

[Progressive external ophthalmoplegia of mitochondrial origin: contribution of morphological and molecular studies].Semantic proximity Read ↗

Chronic progressive external ophthalmoplegia.Semantic proximity Read ↗

[Chronic progressive external ophthalmoplegia with mitochondrial anomalies. Clinical, histological, biochemical and genetic analysis (9 cases)].Semantic proximity Read ↗

Mutations of the mitochondrial DNA: the contribution of DNA techniques to the diagnosis of mitochondrial encephalomyopathies.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.