Article
HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype.
Movement disorders : official journal of the Movement Disorder Society - 1 Aug 2018
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
Abstract excerpt
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 sequencing was performed. RESULTS: Whole-exome sequencing analysis revealed two homozygous novel truncating mutations...
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