The Phenotypic Variation of a Family and the Role of Heterozygosity
This case series illustrates the phenotypic variability in -related PD with 1 classical phenotype and 1 patient with isolated jerky tremor. Unilateral hand tremor of the heterozygous father could mislead genetic testing by mimicking dominant inheritance.
|citation||Stark R S, Walch J, Kägi G. The Phenotypic Variation of a Family and the Role of Heterozygosity. Mov Disord Clin Pract 2019; 6:700-703.|
|type||journal paper/review (English)|
|date of publishing||16-09-2019|
|journal title||Mov Disord Clin Pract (6/8)|