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Article

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

American journal of human genetics - 10 Feb 2012

Mayr Johannes A, Haack Tobias B, Graf Elisabeth, Zimmermann Franz A, Wieland Thomas, Haberberger Birgit, Superti-Furga Andrea, Kirschner Janbernd, Steinmann Beat, Baumgartner Matthias R, Moroni Isabella, Lamantea Eleonora, Zeviani Massimo, Rodenburg Richard J, Smeitink Jan, Strom Tim M, Meitinger Thomas, Sperl Wolfgang, Prokisch Holger

Abstract excerpt

Exome sequencing of an individual with congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, and lactic acidosis, all typical symptoms of Sengers syndrome, discovered two nonsense mutations in the gene encoding mitochondrial acylglycerol kinase (AGK). Mutation screening of AGK in further individuals with congenital cataracts and cardiomyopathy identified numerous loss-of-function mutations in an...

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Identifiers

PMID: 22284826
DOI: 10.1016/j.ajhg.2011.12.005
PMCID: PMC3276657

Genes

AGK

Provenance

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.

Related research

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Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.PMID 22284826Read ↗

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

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