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Article

Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.

Biochemical and biophysical research communications - 26 Aug 2011

Ronchi Dario, Bordoni Andreina, Cosi Alessandra, Rizzuti Mafalda, Fassone Elisa, Di Fonzo Alessio, Servida Maura, Sciacco Monica, Collotta Martina, Ronzoni Marco, Lucchini Valeria, Mattioli Marco, Moggio Maurizio, Bresolin Nereo, Corti Stefania, Comi Giacomo P

Abstract excerpt

Leigh syndrome (LS) is an incurable, nearly always fatal, neurodegenerative, pediatric disorder that results from respiratory chain failure. The most common mitochondrial DNA (mtDNA) mutations that result in LS are m.8993T→C/G and m.9176T→C/G, which were previously found in several patients with...

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Identifiers

PMID: 21819970
DOI: 10.1016/j.bbrc.2011.07.076

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21819970-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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