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Article

Uneven distribution of mitochondrial DNA mutation in MERRF dizygotic twins.

Journal of the neurological sciences - 1 Jul 1992

Penisson-Besnier I, Degoul F, Desnuelle C, Dubas F, Josi K, Emile J, Lestienne P

Abstract excerpt

A new family of myoclonic epilepsy with ragged-red fibers (MERRF) was studied at clinical, histological, biochemical and molecular genetic levels. There was a remarkable variation in the age of onset, the clinical presentation and the severity of symptoms. Multiple defects affecting respiratory chain complexes I, III and IV were detected in 2 patients. The point mutation at 8344 of the mitochondrial genome was...

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Source

Identifiers

PMID: 1324294
DOI: 10.1016/0022-510x(92)90021-c

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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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