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

Olgiati, Simone; Dogu, Okan; Tufekcioglu, Zeynep; DİLER, Yunus; Saka, Esen; GÜLTEKİN, MURAT; Kaleagasi, Hakan; KUİPERS, Demy; GRAAFLAND, Josja; Breedveld, Guido; QUADRİ, Marialuisa; SÜRMELİ, Reyhan; SÜNTER, Gulin; DOĞAN, Tugrul; Yalcin, Aye; Bilgic, Basar; Elibol, Bulent; Emre, Murat; Hanagasi, Hasmet; Bonifati, Vincenzo

doi:10.1016/j.parkreldis.2017.03.012

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

Olgiati S., Dogu O., Tufekcioglu Z., DİLER Y., Saka E., GÜLTEKİN M., ...Daha Fazla

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

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
Erciyes 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.