A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone

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 di...

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Detalles Bibliográficos
Autores principales: Chen, Sihui, Lai, Xiaohui, Fu, Jiajia, Yang, Jing, Zhao, Bi, Shang, Huifang, Huang, Rui, Chen, Xueping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10064749/
https://www.ncbi.nlm.nih.gov/pubmed/37004026
http://dx.doi.org/10.1186/s12883-023-03172-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10064749/
https://www.ncbi.nlm.nih.gov/pubmed/37004026
http://dx.doi.org/10.1186/s12883-023-03172-z

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