Article
Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
American journal of human genetics - 2 Apr 2015
Charlesworth Gavin, Angelova Plamena R, Bartolomé-Robledo Fernando, Ryten Mina, Trabzuni Daniah, Stamelou Maria, Abramov Andrey Y, Bhatia Kailash P, Wood Nicholas W
Abstract excerpt
Reports of primary isolated dystonia inherited in an autosomal-recessive (AR) manner, often lumped together as "DYT2 dystonia," have appeared in the scientific literature for several decades, but no genetic cause has been identified to date. Using a combination of homozygosity mapping and whole-exome sequencing in a consanguineous kindred affected by AR isolated dystonia, we identified homozygous mutations in...
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