Figure 2.

Mutational analysis. (a) A missense mutation involving a C→T transition at nucleotide 49 (p.Pro17Ser) was identified in Family A. (b) A novel missense mutation revealed a G→T transition at nucleotide 135 (p.Gln45His) in Family B. (c) A splice site mutation involving a A→G transition at c.52‐2 was identified in an acceptor splice site of intron 2 (c.52‐2 A>G) in Family C. Horizontal arrows indicate the direction of transcription. Boxes indicate the affected codons