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Article

Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.

Molecular genetics and metabolism - 1 Nov 2006

Pagnamenta Alistair T, Hargreaves Iain P, Duncan Andrew J, Taanman Jan-Willem, Heales Simon J, Land John M, Bitner-Glindzicz Maria, Leonard James V, Rahman Shamima

Abstract excerpt

We report a patient with relatively mild Leigh syndrome and mitochondrial respiratory chain complex II deficiency caused by a homozygous G555E mutation in the nuclear encoded flavoprotein subunit of succinate dehydrogenase. This mutation has previously been reported in a lethal-infantile presentation of complex II deficiency. Such marked phenotypic heterogeneity, although typical of heteroplasmic mutations in the...

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Identifiers

PMID: 16798039
DOI: 10.1016/j.ymgme.2006.05.003

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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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