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Title:

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

Document type:
Journal Article; Research Support, Non-U.S. Gov't; Article
Author(s):
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...     »
Journal title abbreviation:
Mov Disord
Year:
2013
Journal volume:
28
Journal issue:
2
Pages contribution:
224-7
Language:
eng
Fulltext / DOI:
doi:10.1002/mds.25256
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/23436634
Print-ISSN:
0885-3185
TUM Institution:
Fachgebiet Neuroradiologie (Prof. Zimmer); Institut für Humangenetik; Neurologische Klinik und Poliklinik
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