Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

@article{Mayr2012LackOT,
  title={Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.},
  author={Johannes A Mayr and Tobias B. Haack and Elisabeth Graf and Franz A Zimmermann and Thomas Wieland and Birgit Haberberger and Andrea Superti-Furga and Janbernd Kirschner and Beat Steinmann and Matthias R Baumgartner and Isabella Moroni and Eleonora Lamantea and Massimo Zeviani and Richard J T Rodenburg and Jan A.M. Smeitink and Tim Matthias Strom and Thomas Meitinger and Wolfgang Sperl and Holger Prokisch},
  journal={American journal of human genetics},
  year={2012},
  volume={90 2},
  pages={
          314-20
        }
}
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 additional eight families, confirming the causal nature of AGK deficiency in Sengers… CONTINUE READING

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