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Title:

C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.

Document type:
Journal Article; Research Support, Non-U.S. Gov't
Author(s):
Deschauer, M; Gaul, C; Behrmann, C; Prokisch, H; Zierz, S; Haack, TB
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...     »
Journal title abbreviation:
J Neurol
Year:
2012
Journal volume:
259
Journal issue:
11
Pages contribution:
2434-9
Language:
eng
Fulltext / DOI:
doi:10.1007/s00415-012-6521-7
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/22584950
Print-ISSN:
0340-5354
TUM Institution:
Institut für Humangenetik
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