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Fig. 1 | BMC Medical Genetics

Fig. 1

From: A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature

Fig. 1

The family pedigree showing the mutations detected in GLRA1. a The pedigree of the family with hyperekplexia. The arrow indicates the proband; his parents have no signs of hyperekplexia. b The mutations detected in the family. The proband has both mutations, while the c.569C > T mutation was only detected in his mother and the c.1270G > A mutation was only detected in his father

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