The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN

Olgiati S., DOĞU O., Tufekcioglu Z., Diler Y., SAKA TOPÇUOĞLU E., GÜLTEKİN M., ...Daha Fazla

PARKINSONISM & RELATED DISORDERS, cilt.39, ss.64-70, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 39
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.parkreldis.2017.03.012
  • Dergi Adı: PARKINSONISM & RELATED DISORDERS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.64-70
  • Anahtar Kelimeler: MPAN, C19orf12, Mutation, Neurodegeneration, Iron accumulation, Parkinsonism, BRAIN IRON ACCUMULATION, PROTEIN-ASSOCIATED NEURODEGENERATION, MITOCHONDRIAL PROTEIN, TIGER SIGN, FEATURES, SUBTYPE, EYE
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Introduction: Mutations in the C19orf12 gene cause mitochondrial membrane protein associated neurodegeneration (MPAN), an autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA). A limited number of patients with C19orf12 mutations, particularly those with adult onset of symptoms, have been reported.