Article
A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone.
BMC neurology - 31 Mar 2023
Chen Sihui, Lai Xiaohui, Fu Jiajia, Yang Jing, Zhao Bi, Shang Huifang, Huang Rui, Chen Xueping
Abstract excerpt
BACKGROUND: Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare and devastating disease caused by pathogenic mutations in C19orf12 gene. MPAN is characterized by pathological iron accumulation in the brain and fewer than 100 cases of MPAN have been described. Although the diagnosis of MPAN has achieved a great breakthrough with the application of the whole exome gene sequencing...
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