Table 2.

Mutations in the GAMT gene

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

Nucleotide numbering starting at the first adenine of the translation initiation codon ATG.

^a Two affected siblings.