Novel compound heterozygous mutations in PRKRA cause pure dystonia.
Hospital Israelita Albert Einstein, Sao Paulo, SP, Brazil.|Universidade Federal de Sao Paulo, Department of Neurology and Neurosurgery, Sao Paulo, SP, Brazil.
Patricia
P
de Carvalho Aguiar
Universidade Federal de Sao Paulo, Department of Neurology and Neurosurgery, Sao Paulo, SP, Brazil.
Vanderci
V
Borges
Universidade Federal de Sao Paulo, Department of Neurology and Neurosurgery, Sao Paulo, SP, Brazil.
Henrique Ballalai
HB
Ferraz
Genetics and Genomic Sciences and Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Laurie Jean
LJ
Ozelius
D056915:DNA Copy Number Variations / Q000235:genetics*; D020821:Dystonic Disorders / Q000235:genetics*; D059472:Exome / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D016601:RNA-Binding Proteins / Q000235:genetics*
D016601:RNA-Binding Proteins