Article
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
Neurology - 15 Jan 2013
Hogarth Penelope, Gregory Allison, Kruer Michael C, Sanford Lynn, Wagoner Wendy, Natowicz Marvin R, Egel Robert T, Subramony S H, Goldman Jennifer G, Berry-Kravis Elizabeth, Foulds Nicola C, Hammans Simon R, Desguerre Isabelle, Rodriguez Diana, Wilson Callum, Diedrich Andrea, Green Sarah, Tran Huong, Reese Lindsay, Woltjer Randall L, Hayflick Susan J
Abstract excerpt
OBJECTIVE: To assess the frequency of mutations in C19orf12 in the greater neurodegeneration with brain iron accumulation (NBIA) population and further characterize the associated phenotype. METHODS: Samples from 161 individuals with idiopathic NBIA were screened, and C19orf12 mutations were identified in 23 subjects. Direct examinations were completed on 8 of these individuals, and medical records were reviewed...
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