Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

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 fur...

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Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3276657/
https://ncbi.nlm.nih.gov/pubmed/22284826
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.12.005
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