Article
Characterization of seven novel mutations in seven patients with GAMT deficiency.
Human mutation - 1 May 2004
Item C B, Mercimek-Mahmutoglu S, Battini R, Edlinger-Horvat C, Stromberger C, Bodamer O, Mühl A, Vilaseca M A, Korall H, Stöckler-Ipsiroglu S
Abstract excerpt
Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive error of creatine synthesis characterized by cerebral creatine deficiency, accumulation of guanidinoacetate, mental retardation, epilepsy and extrapyramidal signs. So far, six mutations have been identified in seven patients. We investigated seven new patients by screening the promoter, 3'UTR, and six exons and exon/intron boundaries...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.