Article
The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN.
Parkinsonism & related disorders - 1 Jun 2017
Olgiati Simone, Doğu Okan, Tufekcioglu Zeynep, Diler Yunus, Saka Esen, Gultekin Murat, Kaleagasi Hakan, Kuipers Demy, Graafland Josja, Breedveld Guido J, Quadri Marialuisa, Sürmeli Reyhan, Sünter Gülin, Doğan Tuğrul, Yalçın Ayşe Destina, Bilgiç Başar, Elibol Bülent, Emre Murat, Hanagasi Hasmet A, Bonifati Vincenzo
Abstract excerpt
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. METHODS: We sequenced the entire coding region of C19orf12 in 15 Turkish adult probands...
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