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Article

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

European journal of human genetics : EJHG - 1 Aug 2012

Tuppen Helen A L, Naess Karin, Kennaway Nancy G, Al-Dosary Mazhor, Lesko Nicole, Yarham John W, Bruhn Helene, Wibom Rolf, Nennesmo Inger, Weleber Richard G, Blakely Emma L, Taylor Robert W, McFarland Robert

Abstract excerpt

Although over 200 pathogenic mitochondrial DNA (mtDNA) mutations have been reported to date, determining the genetic aetiology of many cases of mitochondrial disease is still not straightforward. Here, we describe the investigations undertaken to uncover the underlying molecular defect(s) in two...

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Identifiers

PMID: 22378285
DOI: 10.1038/ejhg.2012.44
PMCID: PMC3400738

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22378285-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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