A novel mutation in a patient with pantothenate kinase–associated neurodegeneration

Autor:	Shaheen Khanum, Danish Saleheen, Aisha Nazir, Philippe M. Frossard, Shajjia Razi Haider
Rok vydání:	2005
Předmět:	Mutation Basal (phylogenetics) Neurodegeneration medicine Letters General Medicine Biology medicine.disease PANK2 medicine.disease_cause Molecular biology Novel mutation Pantothenate kinase-associated neurodegeneration
Zdroj:	Canadian Medical Association Journal. 173:578.3-579
ISSN:	1488-2329 0820-3946
Popis:	Pantothenate kinase–associated neurodegeneration is an autosomal recessive disorder characterized by accumulation of iron mainly in the basal ganglia.[1][1],[2][2] In about half of these cases, patients have an identifiable mutation in the PANK2 gene.[1][1] We previously described a 13-year-old
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b96146f32044ea8db9dabb5944f7c59 https://doi.org/10.1503/cmaj.1050096 Zobrazit plný text záznamu