Phenotypic expression and founder effect of PANK2 c.1583C>T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients

Phenotypic expression and founder effect of PANK2 c.1583C>T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients

Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by dystonia, parkinsonism, cognitive and visual impairment, and iron accumulation in the brain. Many cases of PKAN result from mutations in the PANK2 gene that encodes pantothenate kinase 2, a ke...

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Bibliographic Details
Main Authors: Svetel Marina, Hartig Monika, Cvetković Dragana, Beaubois Cyrielle, Maksić Jasmina, Novaković Ivana, Krajinović Maja, Kostić Vladimir
Format: Article
Language:English
Published: University of Belgrade, University of Novi Sad 2019-01-01
Series:Archives of Biological Sciences
Subjects:
founder effect
PANK2 mutation
phenotype
PKAN
Online Access:http://www.doiserbia.nb.rs/img/doi/0354-4664/2019/0354-46641900009S.pdf

Internet

http://www.doiserbia.nb.rs/img/doi/0354-4664/2019/0354-46641900009S.pdf

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