A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone
A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone
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Author / Creator
Chen, Sihui , Lai, Xiaohui , Fu, Jiajia , Yang, Jing , Zhao, Bi , Shang, Huifang , Huang, Rui and Chen, Xueping
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
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 app...
Alternative Titles
Full title
A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone
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Author / Creator
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_7a9974bd6dd74919aadedd919f538770
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7a9974bd6dd74919aadedd919f538770
Other Identifiers
ISSN
1471-2377
E-ISSN
1471-2377
DOI
10.1186/s12883-023-03172-z
