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Title:

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

Document type:
Journal Article; Research Support, Non-U.S. Gov't; Article
Author(s):
Haack, TB; Madignier, F; Herzer, M; Lamantea, E; Danhauser, K; Invernizzi, F; Koch, J; Freitag, M; Drost, R; Hillier, I; Haberberger, B; Mayr, JA; Ahting, U; Tiranti, V; Rötig, A; Iuso, A; Horvath, R; Tesarova, M; Baric, I; Uziel, G; Rolinski, B; Sperl, W; Meitinger, T; Zeviani, M; Freisinger, P; Prokisch, H
Abstract:
Mitochondrial complex I deficiency is the most common cause of mitochondrial disease in childhood. Identification of the molecular basis is difficult given the clinical and genetic heterogeneity. Most patients lack a molecular definition in routine diagnostics.A large-scale mutation screen of 75 candidate genes in 152 patients with complex I deficiency was performed by high-resolution melting curve analysis and Sanger sequencing. The causal role of a new disease allele was confirmed by functiona...     »
Journal title abbreviation:
J Med Genet
Year:
2012
Journal volume:
49
Journal issue:
2
Pages contribution:
83-9
Language:
eng
Fulltext / DOI:
doi:10.1136/jmedgenet-2011-100577
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/22200994
Print-ISSN:
0022-2593
TUM Institution:
Institut für Humangenetik
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