Novel PANK2 mutation identified in patient with pantothenate kinase-associated neurodegeneration
Introduction. Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, recessively inherited disorder caused by mutations in the pantothenate kinase 2 (PANK2) gene on chromosome 20p13. The objective of this report is to present a patient with atypical PKAN with the novel heterozygous PANK2...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Serbian Medical Society
2020-01-01
|
| Series: | Srpski Arhiv za Celokupno Lekarstvo |
| Subjects: | |
| Online Access: | http://www.doiserbia.nb.rs/img/doi/0370-8179/2020/0370-81792000005S.pdf |