A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal

Guanidinoacetate methyltransferase (GAMT) deficiency (MIM 601240), an autosomal recessive disorder of creatine biosynthesis, presents with mental retardation, extrapyramidal symptoms, autistic-like behavior and epilepsy. Other hallmarks are cerebral creatine deficiency, increased levels of guanidino...

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Veröffentlicht in:	Molecular genetics and metabolism 2007-05, Vol.91 (1), p.1-6
Hauptverfasser:	Almeida, L.S., Vilarinho, L., Darmin, P.S., Rosenberg, E.H., Martinez-Muñoz, C., Jakobs, C., Salomons, G.S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Base Sequence c.59G>C p.Trp20Ser Carrier rate Creatine deficiency Deficiency Diseases - diagnosis Deficiency Diseases - genetics DNA Mutational Analysis GAMT Geography Guanidinoacetate N-Methyltransferase - deficiency Guanidinoacetate N-Methyltransferase - genetics HeLa Cells Humans Molecular Sequence Data Mutation, Missense Polymorphism, Single Nucleotide Portugal Prevalence Sequence Alignment Serine - genetics Serine - metabolism Transfection Tryptophan - genetics Tryptophan - metabolism W20S
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