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References

These sources were used to develop the Genetics Home Reference condition summary on Leber hereditary optic neuropathy.

Gene Review: Leber Hereditary Optic Neuropathy
Huoponen K. Leber hereditary optic neuropathy: clinical and molecular genetic findings. Neurogenetics. 2001 Jul;3(3):119-25. Review. PubMed citation
Man PY, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. J Med Genet. 2002 Mar;39(3):162-9. Review. PubMed citation
Mroczek-Tońska K, Kisiel B, Piechota J, Bartnik E. Leber hereditary optic neuropathy--a disease with a known molecular basis but a mysterious mechanism of pathology. J Appl Genet. 2003;44(4):529-38. Review. PubMed citation
Newman NJ. From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers. J Neuroophthalmol. 2002 Dec;22(4):257-61. Review. PubMed citation
Newman NJ. Hereditary optic neuropathies: from the mitochondria to the optic nerve. Am J Ophthalmol. 2005 Sep;140(3):517-23. Review. PubMed citation
Spruijt L, Kolbach DN, de Coo RF, Plomp AS, Bauer NJ, Smeets HJ, de Die-Smulders CE. Influence of mutation type on clinical expression of Leber hereditary optic neuropathy. Am J Ophthalmol. 2006 Apr;141(4):676-82. PubMed citation

Reviewed: August 2006

Published: May 21, 2012