Article
Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.
American journal of human genetics - 7 Dec 2012
Charlesworth Gavin, Plagnol Vincent, Holmström Kira M, Bras Jose, Sheerin Una-Marie, Preza Elisavet, Rubio-Agusti Ignacio, Ryten Mina, Schneider Susanne A, Stamelou Maria, Trabzuni Daniah, Abramov Andrey Y, Bhatia Kailash P, Wood Nicholas W
Abstract excerpt
In this study, we combined linkage analysis with whole-exome sequencing of two individuals to identify candidate causal variants in a moderately-sized UK kindred exhibiting autosomal-dominant inheritance of craniocervical dystonia. Subsequent screening of these candidate causal variants in a large number of familial and sporadic cases of cervical dystonia led to the identification of a total of six putatively...
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