PNKP mutation in a child: is there a firm line between MCSZ and AOA4 phenotype?

Neurol Neurochir Pol. 2024;58(2):207-209. doi: 10.5603/pjnns.97269. Epub 2024 Jan 17.

Authors

Isidora Semnic¹, Tamara Ristic², Katarina Koprivsek³

Affiliations

¹ Medical Faculty of Novi Sad, Clinical Centre of Vojvodina, Novi Sad, Serbia. isidorasemnic@yahoo.com.
² Child Neurology Department, Institute for Child and Youth Healthcare of Vojvodina, Novi Sad, Serbia.
³ Radiology Department, Institute for Child and Youth Healthcare of Vojvodina, Novi Sad, Serbia.

PMID: 38230758
DOI: 10.5603/pjnns.97269

No abstract available

Keywords: AOA4; MCSZ; PNKP.

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Female
Humans
Mutation
Pantothenate Kinase-Associated Neurodegeneration / genetics
Phenotype*
Phosphotransferases (Alcohol Group Acceptor) / genetics

Substances

Phosphotransferases (Alcohol Group Acceptor)