PMC4150640_01
Causative mutation for the Lafora body disease in the EPM2B gene c.992delG (homozygous) demonstrated in the patient. Both parents are heterozygous carriers of the EPM2B gene mutation c.992delG.
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Our analysis identified causative mutation for the LBD in the EPM2B gene c.992delG (homozygous) (Fig. 1). The analysis determined that both parents were heterozygous carriers of the EPM2B gene mutation c.992delG (Fig. 1).