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Segregation of the ND4/11778 and the ND1/3460 mutations in four heteroplasmic LHON families

✍ Scribed by Anu Puomila; Tommi Viitanen; Marja-Liisa Savontaus; Eeva Nikoskelainen; Kirsi Huoponen


Book ID
119465717
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
153 KB
Volume
205
Category
Article
ISSN
0022-510X

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Tissue distribution of the ND4/11778 mut
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Leber hereditary optic neuropathy (LHON) is a maternally inherited eye disease most commonly caused by mitochondrial DNA (mtDNA) point mutation at position 11778, 3460, or 14484. Approximately 14% of families show heteroplasmy for the pathogenic mutations but little is known about the mutational bur