Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic neurodegenerative disorder with brain iron accumulation characterized as dysarthria, spasticity, cognitive impairment, parkinsonism, and retinopathy. PKAN is caused by biallelic mutations in the mitochondrial pantothenate kina...

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Detalles Bibliográficos
Autores principales: Tao, Yilun, Zhao, Chen, Han, Dong, Wei, Yiju, Wang, Lihong, Song, Wenxia, Li, Xiaoze
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10175671/
https://www.ncbi.nlm.nih.gov/pubmed/37188304
http://dx.doi.org/10.3389/fneur.2023.1170557

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10175671/
https://www.ncbi.nlm.nih.gov/pubmed/37188304
http://dx.doi.org/10.3389/fneur.2023.1170557

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