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 further individuals with congenital cataracts and… (More)
DOI: 10.1016/j.ajhg.2011.12.005

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