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

Olgiati, Simone; DOĞU, OKAN; Tufekcioglu, Zeynep; Diler, Yunus; SAKA TOPÇUOĞLU, ESEN; GÜLTEKİN, MURAT; Kaleagasi, Hakan; Kuipers, Demy; Graafland, Josja; Breedveld, Guido; Quadri, Marialuisa; Surmeli, Reyhan; Sunter, Gulin; Dogan, Tugrul; Yalcin, Aye; Bilgic, Basar; ELİBOL, BÜLENT; 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., DOĞU O., Tufekcioglu Z., Diler Y., SAKA TOPÇUOĞLU E., GÜLTEKİN M., ...More

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

Publication Type: Article / Article
Volume: 39
Publication Date: 2017
Doi Number: 10.1016/j.parkreldis.2017.03.012
Journal Name: PARKINSONISM & RELATED DISORDERS
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.64-70
Keywords: MPAN, C19orf12, Mutation, Neurodegeneration, Iron accumulation, Parkinsonism, BRAIN IRON ACCUMULATION, PROTEIN-ASSOCIATED NEURODEGENERATION, MITOCHONDRIAL PROTEIN, TIGER SIGN, FEATURES, SUBTYPE, EYE
Hacettepe University Affiliated: Yes

Abstract

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.