Ontology highlight
ABSTRACT:
SUBMITTER: Hersheson J
PROVIDER: S-EPMC3698699 | biostudies-literature | 2013 Apr
REPOSITORIES: biostudies-literature
Hersheson Joshua J Mencacci Niccolo E NE Davis Mary M MacDonald Nicola N Trabzuni Daniah D Ryten Mina M Pittman Alan A Paudel Reema R Kara Eleanna E Fawcett Katherine K Plagnol Vincent V Bhatia Kailash P KP Medlar Alan J AJ Stanescu Horia C HC Hardy John J Kleta Robert R Wood Nicholas W NW Houlden Henry H
Annals of neurology 20130219 4
Dystonia type 4 (DYT4) was first described in a large family from Heacham in Norfolk with an autosomal dominantly inherited whispering dysphonia, generalized dystonia, and a characteristic hobby horse ataxic gait. We carried out a genetic linkage analysis in the extended DYT4 family that spanned 7 generations from England and Australia, revealing a single LOD score peak of 6.33 on chromosome 19p13.12-13. Exome sequencing in 2 cousins identified a single cosegregating mutation (p.R2G) in the β-tu ...[more]