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Influence of Mutation Type on Clinical Expression of Leber Hereditary Optic Neuropathy

✍ Scribed by Liesbeth Spruijt; Dinanda N. Kolbach; Rene F. de Coo; Astrid S. Plomp; Noel J. Bauer; Hubertus J. Smeets; Christine E.M. de Die-Smulders


Book ID
116200977
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
215 KB
Volume
141
Category
Article
ISSN
0002-9394

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Leber hereditary optic neuropathy: Does
✍ Chinnery, Patrick F. ;Andrews, Richard M. ;Turnbull, Douglass M. ;Howell, Neil πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 209 KB πŸ‘ 2 views

Leber hereditary optic neuropathy (LHON) is a major cause of inherited blindness in young males. Approximately 1 in 7 individuals with LHON harbor a mixture of mutated and wild-type (normal) mtDNA (heteroplasmy), and the risks of developing blindness in heteroplasmic LHON individuals are not well ch