HPCA confirmed as a genetic cause of DYT2‐like dystonia phenotype

Background: HPCA (hippocalcin) is one of the underlying genetic causes of autosomal‐recessively inherited forms of dystonia. Here, we describe two consanguineous Turkish DYT‐HPCA families carrying the novel HPCA mutations. Methods: After detailed clinical and neurological examination, whole‐exome se...

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Bibliographic Details

Published in:	Movement disorders Vol. 33; no. 8; pp. 1354 - 1358
Main Authors:	Atasu, Burcu, Hanagasi, Hasmet, Bilgic, Basar, Pak, Meltem, Erginel‐Unaltuna, Nihan, Hauser, Ann‐Kathrin, Guven, Gamze, Simón‐Sánchez, Javier, Heutink, Peter, Gasser, Thomas, Lohmann, Ebba
Format:	Journal Article
Language:	English
Published:	United States 01.08.2018
Subjects:	dystonia DYT2 HPCA mutation Turkey mutation DYT2 Turkey dystonia HPCA
ISSN:	0885-3185, 1531-8257, 1531-8257
Online Access:	Get full text
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