Publikace na 1. lékařská fakulta |
2011
Abstrakt
The authors describe a novel mutation of THAP1 gene in 2 siblings (a boy and girl) with a rapid generalization into a life-threatening status dystonicus (SD) in the boy.
The authors describe a novel mutation of THAP1 gene in 2 siblings (a boy and girl) with a rapid generalization into a life-threatening status dystonicus (SD) in the boy.