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Titel:

Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.

Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't; Article
Autor(en):
Schulte, EC; Claussen, MC; Jochim, A; Haack, T; Hartig, M; Hempel, M; Prokisch, H; Haun-Jünger, U; Winkelmann, J; Hemmer, B; Förschler, A; Ilg, R
Abstract:
Recently, mutations in an open-reading frame on chromosome 19 (C19orf12) were identified as a novel genetic factor in neurodegeneration with brain iron accumulation (NBIA). Because of the mitochondrial localization of the derived protein, this variant is referred to as mitochondrial membrane protein-associated neurodegeneration with brain iron accumulation (MPAN).We describe the clinical phenotype and MRI of 3 newly identified individuals with MPAN due to either previously reported or novel homo...     »
Zeitschriftentitel:
Mov Disord
Jahr:
2013
Band / Volume:
28
Heft / Issue:
2
Seitenangaben Beitrag:
224-7
Sprache:
eng
Volltext / DOI:
doi:10.1002/mds.25256
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/23436634
Print-ISSN:
0885-3185
TUM Einrichtung:
Fachgebiet Neuroradiologie (Prof. Zimmer); Institut für Humangenetik; Neurologische Klinik und Poliklinik
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