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Article

Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy.

JAMA neurology - 1 Dec 2013

Spyropoulos Achilles, Manford Mark, Horvath Rita, Alston Charlotte L, Yu-Wai-Man Patrick, He Langping, Taylor Robert W, Chinnery Patrick F

Abstract excerpt

IMPORTANCE: Mitochondrial DNA (mtDNA) disorders have emerged as major causes of inherited neurologic disease. Despite being well recognized for more than 2 decades, the clinical presentation continues to broaden. The phenotypic heterogeneity is partly owing to different percentage levels of mutant mtDNA heteroplasmy in different tissues, but the factors influencing this are poorly understood. OBSERVATIONS: This...

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Identifiers

PMID: 24126373
DOI: 10.1001/jamaneurol.2013.4111
PMCID: PMC6551219

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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