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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.

Orphanet journal of rare diseases | 2014

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.

Pubmed ID: 25208612 RIS Download

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Associated grants

  • Agency: Wellcome Trust, United Kingdom
    Id: 096919
  • Agency: Wellcome Trust, United Kingdom
    Id: 101876
  • Agency: Medical Research Council, United Kingdom
    Id: MR/K000608/1
  • Agency: Wellcome Trust, United Kingdom
    Id: 096919Z/11/Z

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