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2007•The American Journal of Human GeneticsOpen access

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

Gavin Hudson, Valério Carelli, Liesbeth Spruijt, Mike Gerards, Catherine Mowbray, Alessandro Achilli, Angela Pyle, Joanna L. Elson, Neil J. Howell, Chiara La Morgia, Maria Lucia Valentino, Kirsi Huoponen, Marja‐Liisa Savontaus, Eeva K. Nikoskelainen, Alfredo Arrigo Sadun, Solange Rios Salomão, Rubens Belfort, Philip G. Griffiths, Patrick Yu Wai Man, I.F.M. de Coo, Rita Horváth, Massimo Zeviani, Hubert Smeets, Antonio Torroni, Patrick Francis Chinnery

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Key concepts: Haplogroup, Penetrance, Mitochondrial DNA, Genetics, Leber's hereditary optic neuropathy, Optic neuropathy, Point mutation, Human mitochondrial DNA haplogroup

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