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Document type:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
Author(s):
van den Bosch, BJ; Gerards, M; Sluiter, W; Stegmann, AP; Jongen, EL; Hellebrekers, DM; Oegema, R; Lambrichs, EH; Prokisch, H; Danhauser, K; Schoonderwoerd, K; de Coo, IF; Smeets, HJ 
Title:
Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 
Abstract:
Mitochondrial disorders are associated with abnormalities of the oxidative phosphorylation (OXPHOS) system and cause significant morbidity and mortality in the population. The extensive clinical and genetic heterogeneity of these disorders due to a broad variety of mutations in several hundreds of candidate genes, encoded by either the mitochondrial DNA (mtDNA) or nuclear DNA (nDNA), impedes a straightforward genetic diagnosis. A new disease gene is presented here, identified in a single Kurdish...    »
 
Journal title abbreviation:
J Med Genet 
Year:
2012 
Journal volume:
49 
Journal issue:
Pages contribution:
10-5 
Language:
eng 
Print-ISSN:
0022-2593 
TUM Institution:
Institut für Humangenetik