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Article

Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.

Molecular genetics and metabolism - 1 Jan 2013

Siriwardena Komudi, Mackay Nevena, Levandovskiy Valeriy, Blaser Susan, Raiman Julian, Kantor Paul F, Ackerley Cameron, Robinson Brian H, Schulze Andreas, Cameron Jessie M

Abstract excerpt

We report on two families with Sengers syndrome and mutations in the acylglycerol kinase gene (AGK). In the first family, two brothers presented with vascular strokes, lactic acidosis, cardiomyopathy and cataracts, abnormal muscle cell histopathology and mitochondrial function. One proband had very abnormal mitochondria with citrate synthase crystals visible in electron micrographs, associated with markedly high...

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Identifiers

PMID: 23266196
DOI: 10.1016/j.ymgme.2012.11.282

Genes

AGK

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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