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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Detalhes bibliográficos
Main Authors: Svetel Marina, Hartig Monika, Cvetković Dragana, Beaubois Cyrielle, Maksić Jasmina, Novaković Ivana, Krajinović Maja, Kostić Vladimir
Formato: Artigo
Idioma:Inglês
Publicado em: University of Belgrade, University of Novi Sad 2019-01-01
Colecção:Archives of Biological Sciences
Assuntos:
founder effect
PANK2 mutation
phenotype
PKAN
Acesso em linha:http://www.doiserbia.nb.rs/img/doi/0354-4664/2019/0354-46641900009S.pdf
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