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Dokumenttyp:
journal article 
Autor(en):
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 
Titel:
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. 
Abstract:
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.We investigated the clinical and molecular features of Sengers syndrome in seven new families; five families with the severe and two with the milder form.Sequence analysis of AGK revealed compound heterozygous or...    »
 
Zeitschriftentitel:
Orphanet J Rare Dis 
Jahr:
2014 
Band / Volume:
Seitenangaben Beitrag:
119 
Sprache:
eng 
TUM Einrichtung:
Institut für Humangenetik