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Titel:

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.

Dokumenttyp:
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Hartig, MB; Hortnagel, K; Garavaglia, B; Zorzi, G; Kmiec, T; Klopstock, T; Rostasy, K; Svetel, M; Kostic, VS; Schuelke, M; Botz, E; Weindl, A; Novakovic, I; Nardocci, N; Prokisch, H; Meitinger, T
Abstract:
OBJECTIVE: Neurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterized by magnetic resonance imaging (MRI) changes in basal ganglia. Both missense and nonsense mutations have been found in such patients in a gene encoding the mitochondrial pantothenate kinase (PANK2). METHODS: We completed a mutation screen in 72 patients with the diagnosis NBIA based on clinical findings and radiological imaging. The entire coding region of the PANK2 gene (20p12.3) was investigat...     »
Zeitschriftentitel:
Ann Neurol
Jahr:
2006
Band / Volume:
59
Heft / Issue:
2
Seitenangaben Beitrag:
248-56
Sprache:
eng
Volltext / DOI:
doi:10.1002/ana.20771
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/16437574
Print-ISSN:
0364-5134
TUM Einrichtung:
Institut für Humangenetik
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