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

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. M...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167147/
https://www.ncbi.nlm.nih.gov/pubmed/25208612
http://dx.doi.org/10.1186/s13023-014-0119-3

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