HPCA Confirmed as a Genetic Cause of DYT2-Like Dystonia Phenotype

Atasu B., Hanagasi H. A., Bilgic B., Pak M., Erginel-Unaltuna N., Hauser A., ...Daha Fazla

MOVEMENT DISORDERS, cilt.33, sa.8, ss.1354-1358, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 33 Sayı: 8
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1002/mds.27442
  • Dergi Adı: MOVEMENT DISORDERS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1354-1358
  • Anahtar Kelimeler: dystonia, HPCA, Turkey, DYT2, mutation, ACTIVATION
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.