Article
PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.
Movement disorders : official journal of the Movement Disorder Society - 1 Feb 2013
Dezfouli Mitra Ansari, Alavi Afagh, Rohani Mohammad, Rezvani Mohamad, Nekuie Tayebeh, Klotzle Brandy, Tonekaboni Seyed Hasan, Shahidi Gholam Ali, Elahi Elahe
Abstract excerpt
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) constitutes a group of neurodegenerative disorders with pronounced iron deposition in the basal ganglia. PANK2 mutations are the most common cause of these disorders. C19orf12 was recently reported as another causative gene. We present phenotypic data and results of screening of PANK2 and C19orf12 in 11 unrelated Iranian NBIA patients. METHODS:...
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