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Article

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

JAMA neurology - 1 Jan 2015

Gorman Gráinne S, Pfeffer Gerald, Griffin Helen, Blakely Emma L, Kurzawa-Akanbi Marzena, Gabriel Jessica, Sitarz Kamil, Roberts Mark, Schoser Benedikt, Pyle Angela, Schaefer Andrew M, McFarland Robert, Turnbull Douglass M, Horvath Rita, Chinnery Patrick F, Taylor Robert W

Abstract excerpt

IMPORTANCE: Progressive external ophthalmoplegia (PEO) is a common feature in adults with mitochondrial (mt) DNA maintenance disorders associated with somatic mtDNA deletions in muscle, yet the causal genetic defect in many patients remains undetermined. OBSERVATIONS: Whole-exome sequencing ident...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25420100
DOI: 10.1001/jamaneurol.2014.1753

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25420100-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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