Article
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
Orphanet journal of rare diseases - 20 Aug 2014
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
Abstract excerpt
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 have been recently described as the cause of Sengers syndrome in nine families. METHODS: We investigated the clinical and molecular features of Sengers syndrome in seven new families; five families...
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