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Article

Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy.

Journal of neurology - 1 Aug 1995

Fabrizi G M, Tiranti V, Mariotti C, Guazzi G C, Malandrini A, DiDonato S, Zeviani M

Abstract excerpt

A heteroplasmic insertion of a 9-bp tandem repeat element was detected in the mitochondrial DNA of the maternal members of a large family. The mutation was contained within the non-coding region between the genes specifying subunit II of cytochrome c oxidase and tR-NA(Lys). The proband and most of his maternal relatives were affected by a late-onset mitochondrial encephalomyopathy of variable severity,...

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Source

Identifiers

PMID: 8530975
DOI: 10.1007/BF00867418

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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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