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Dokumenttyp:
journal 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 
Titel:
Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation. 
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:
Seitenangaben Beitrag:
224-7 
Sprache:
eng 
Print-ISSN:
0885-3185 
TUM Einrichtung:
Neurologische Klinik und Poliklinik; Institut für Humangenetik; Abteilung für Neuroradiologie