External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation.

doi:10.1016/s0022-510x(02)00048-5

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

Back to search

Article

External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation.

Journal of the neurological sciences - 15 May 2002

Hansrote Sun, Croul Sidney, Selak Mary, Kalman Bernadette, Schwartzman Robert J

Abstract excerpt

BACKGROUND: Chronic progressive external ophthalmoplegia (CPEO) may be related to primary nuclear DNA or mitochondrial (mt)DNA mutations. The A3243G mtDNA point mutation most frequently causes mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, but also has been associated with other phenotypes including CPEO, migraine, seizure, diabetes, and sensorineural hearing loss. CASE...

Topics

Adult
Biopsy
DNA, Mitochondrial
Family Health
Humans
Male
Mitochondrial Diseases
Muscle, Skeletal
Ophthalmoplegia, Chronic Progressive External
Phenotype
Point Mutation

Source

Open in PubMed

Identifiers

PMID: 11997068
DOI: 10.1016/s0022-510x(02)00048-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics