Case report: Novel compound heterozygous variants in the PANK2 gene in a Chinese patient diagnosed with ASD and ADHD

The PANK2 gene, which encodes mitochondrial pantothenate kinase 2 protein, is the disease-causing gene for pantothenate kinase-associated neurodegeneration (PKAN). We report a case of atypical PKAN with autism-like symptoms presenting with speech difficulties, psychiatric symptoms, and mild developm...

Descripción completa

Detalles Bibliográficos
Autores principales: Dong, Siqi, Tuo, Ya, Qi, Zihan, Zhang, Yuanfeng, Liu, Xiaoni, Huang, Ping, Chen, Xiangjun
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/PMC10149840/
https://www.ncbi.nlm.nih.gov/pubmed/37139068
http://dx.doi.org/10.3389/fneur.2023.1118076

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10149840/
https://www.ncbi.nlm.nih.gov/pubmed/37139068
http://dx.doi.org/10.3389/fneur.2023.1118076

Ejemplares similares