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Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

✍ Scribed by Gavin Hudson; Valerio Carelli; Liesbeth Spruijt; Mike Gerards; Catherine Mowbray; Alessandro Achilli; Angela Pyle; Joanna Elson; Neil Howell; Chiara La Morgia; Maria Lucia Valentino; Kirsi Huoponen; Marja-Liisa Savontaus; Eeva Nikoskelainen; Alfredo A. Sadun; Solange R. Salomao; Rubens Belfort Jr.; Philip Griffiths; Patrick Yu Wai Man; Rene F.M. de Coo; Rita Horvath; Massimo Zeviani; Hubert J.T. Smeets; Antonio Torroni; Patrick F. Chinnery


Book ID
117855224
Publisher
American Society of Human Genetics
Year
2007
Tongue
English
Weight
103 KB
Volume
81
Category
Article
ISSN
0002-9297

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Leber hereditary optic neuropathy: Does
✍ Chinnery, Patrick F. ;Andrews, Richard M. ;Turnbull, Douglass M. ;Howell, Neil 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 209 KB 👁 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