Browsing by Author "Haack, Tobias B"

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    • Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients 

      Haghighi, Alireza; Haack, Tobias B; Atiq, Mehnaz; Mottaghi, Hassan; Haghighi-Kakhki, Hamidreza; Bashir, Rani A; Ahting, Uwe; Feichtinger, René G; Mayr, Johannes A; Rötig, Agnès; Lebre, Anne-Sophie; Klopstock, Thomas; Dworschak, Andrea; Pulido, Nathan; Saeed, Mahmood A; Saleh-Gohari, Nasrollah; Holzerova, Eliska; Chinnery, Patrick F; Taylor, Robert W; Prokisch, Holger (BioMed Central, 2014)
      Background: Sengers syndrome is an autosomal recessive condition characterized by congenital cataract, hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis. Mutations in the acylglycerol kinase (AGK) gene ...