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The Leber hereditary optic neuropathy 14484 mutation and X-linked adrenoleukodystrophy: A possible modifier of phenotypic expression?

✍ Scribed by R. G. F. Gray; S. H. Green; P. Davies; S. Alger; A. Green


Book ID
110225511
Publisher
Springer
Year
1999
Tongue
English
Weight
32 KB
Volume
22
Category
Article
ISSN
0141-8955

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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