Fig. 2

Genogram, mutation patterns and electropherograms of the index patient. a The genogram showed an isolated patient. Roman numerals indicate generations and Arabic numbers indicate individuals. Squares = males, circles = females. Affected individuals are denoted by solid symbols and unaffected individuals are denoted by open symbols. The index patient is indicated by an arrow. The two mutations were inherited from father and mother respectively. b The structure of BCHE gene. This novel mutation is within exon 2. c The electropherograms of the mutation c.73A > T of exon 2. The shadowed column was mutation point. d The electropherograms of the mutation c.401_402insA of exon 2. The shadowed column was insertion point