A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2011.01743.x/fullpdf
Reference18 articles.
1. Mitochondrial disorders in the nervous system.;DiMauro;Annu Rev Neurosci,2008
2. Leigh and Leigh-like syndrome in children and adults.;Josef;Pediatr Neurol,2008
3. Minimum birth prevalence of mitochondrial respiratory chain disorders in children.;Skladal;Brain,2003
4. Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder.;Kirby;Neurology,1999
5. Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency
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