Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.

[1]  R. Rodenburg,et al.  Complex I disorders: causes, mechanisms, and development of treatment strategies at the cellular level. , 2010, Developmental disabilities research reviews.

[2]  M. Zeviani,et al.  Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. , 2010, American journal of human genetics.

[3]  F. Lindbichler,et al.  A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy. , 2009, Molecular genetics and metabolism.

[4]  B. Alinger,et al.  Lack of complex I is associated with oncocytic thyroid tumours , 2009, British Journal of Cancer.

[5]  D. Wallace,et al.  A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. , 2009, Molecular genetics and metabolism.

[6]  Christian Gieger,et al.  A genome-wide association study identifies three loci associated with mean platelet volume. , 2009, American journal of human genetics.

[7]  D. Meierhofer,et al.  Loss of Complex I due to Mitochondrial DNA Mutations in Renal Oncocytoma , 2008, Clinical Cancer Research.

[8]  R. Rodenburg,et al.  X‐linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy , 2007, Annals of neurology.

[9]  A. Ballabio,et al.  Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. , 2006, American Journal of Human Genetics.

[10]  S. Seneca,et al.  Mutations in the X‐linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency , 2000, Human mutation.

[11]  D. Vetrie,et al.  A novel X–linked gene, DDP, shows mutations in families with deafness (DFN–1), dystonia, mental deficiency and blindness , 1996, Nature Genetics.

[12]  H. T. ter Laak,et al.  Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle , 1996, Neurology.

[13]  E. Maestrini,et al.  A novel X-linked gene, G4.5. is responsible for Barth syndrome , 1996, Nature Genetics.