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Table 2 Mutations in the GAMT gene

From: Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

Mutations Number of patients identified in this study Reference
Exon (e)/Intron (i) Nucleotide Amino acid Homozygous Heterozygous
e2 c.289C > T p.Q97X 1 - This study
e2 c.299_311dup13 p.R105GfsX26 2a - Dhar et al., 2009 [27]
i3 c.391 + 15G > T p.(?) 1 - This study
e5 c.506G > A p.C169Y 1 - Caldeira Araujo et al., 2005 [63]
e6 c.577C > T p.Q193X 1 - This study
  1. Nucleotide numbering starting at the first adenine of the translation initiation codon ATG.
  2. a Two affected siblings.