Rare primary mt-DNA mutations in Leber hereditary optic neuropathy

Ophthalmology in China

Volumn 16, Issue 6, 2007, Pages 382-385

  Cui, Shi Lei ^a   Yang, Ling ^a   Wang, Wie ^a   Shang, Jun ^a   Zhang, Xiao Jun ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

Leber hereditary optic neuropathy; Mitochondrial DNA; Point mutation

Indexed keywords

EID: 37249001833     PISSN: 10044469     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. Miller NR, Newman NJ. The Essentials: Walsh & Hoyt's Clinical Neuro-Ophthalmology. 5th Edition. Baltimore, Maryland, 1999. 304.
2. Wallace DC, Singh G, Lott MT, et al. Mitachondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science, 1988, 242: 1427-1430.
3. Brown MD, Torroni A, Reckord CL, et al. Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations. Hum Mutat, 1995, 6: 311-325.
4. Mackey DA, Oostra RJ, Rosenberg T, et al. Primary pathogenic rot DNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet, 1996, 59: 481-485.
5. Man PY, Griffiths PG, Brown DT, et al. The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet, 2003, 72: 333-339.
6. Kim JY, Hwang JM, Park SS. Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis. Ann Neurol, 2002, 51: 630-634.
7. Zhou X, Wei Q, Yang L, et al. Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families. Biochem Biophys Res Commun, 2006, 340: 69-75.
8. Wallace DC, Lott MT, Brown MD, et al. Mitochondria and neuro-ophthalmological disease. New York: McGraw-Hill, 2001, 2425-2512.
9. De Vries DD, Went LN, Bruyn GW, et al. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet, 1996, 58: 703-711.