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Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't 
Autor(en):
Deschauer, M; Gaul, C; Behrmann, C; Prokisch, H; Zierz, S; Haack, TB 
Titel:
C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. 
Abstract:
Mutations in C19orf12 have been recently identified as the molecular genetic cause of a subtype of neurodegeneration with brain iron accumulation (NBIA). Given the mitochondrial localization of the gene product the new NBIA subtype was designated mitochondrial membrane protein-associated neurodegeneration. Frequent features in the patients described so far included extrapyramidal signs and pyramidal tract involvement. Here, we report three C19orf12-mutant patients from two families presenting wi...    »
 
Zeitschriftentitel:
J Neurol 
Jahr:
2012 
Band / Volume:
259 
Heft / Issue:
11 
Seitenangaben Beitrag:
2434-9 
Sprache:
eng 
Print-ISSN:
0340-5354 
TUM Einrichtung:
Institut für Humangenetik