Fiche publication
Date publication
août 2014
Journal
Orphanet journal of rare diseases
Auteurs
Membres identifiés du Cancéropôle Est :
Pr LEBRE Anne-Sophie
Tous les auteurs :
Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rötig A, Lebre AS, Klopstock T, Dworschak A, Pulido N, Saeed MA, Saleh-Gohari N, Holzerova E, Chinnery PF, Taylor RW, Prokisch H
Lien Pubmed
Résumé
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.
Mots clés
Cardiomyopathies, genetics, Cataract, genetics, Humans, Mutation, Phenotype, Phosphotransferases (Alcohol Group Acceptor), genetics
Référence
Orphanet J Rare Dis. 2014 Aug 20;9:119
