An mtDNA mutation, 14453G→A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

Author:

Ravn Kirstine,Wibrand Flemming,Hansen Flemming Juul,Horn Nina,Rosenberg Thomas,Schwartz Marianne

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference24 articles.

1. MITOMAP . A human mitochondrial genome database.http://www.gen.emory.edu/mitomap.html

2. Di Mauro S: . Mitochondrial Encephalopathies; in Rosenberg RN, Prusiner SB, Di Mauro S, Barchi RL and Kunkel LM (eds): The molecular and genetic basis of neurological disease Butterworth-Heinemann, Boston, MA, USA 1993 pp 665–695

3. Corona P, Antozzi C, Carrara F et al. A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients Ann Neurol 2001 49: 106–110

4. Chinnery PF, Turnbull DM . Mitochondrial DNA and disease Lancet 1999 354: suppl I 17–21

5. Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML . A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy Am J Hum Genet 1991 48: 1147–1153

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