Fig. 2

Sequencing results of the de novo mutation in the PPP1CB gene. The arrow indicates an A-to-C substitution at nucleotide 548 (c.548A > C, p.Glu183Ala) in the patient (a). This gene was normal in his father (b) and mother (c)
Sequencing results of the de novo mutation in the PPP1CB gene. The arrow indicates an A-to-C substitution at nucleotide 548 (c.548A > C, p.Glu183Ala) in the patient (a). This gene was normal in his father (b) and mother (c)