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Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation

โœ Scribed by Tarnopolsky, Mark A. ;Baker, Steven K. ;Myint, Tomoko ;Maxner, C.E. ;Robitaille, J. ;Robinson, Brian H.

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
84 KB
Volume
124A
Category
Article
ISSN
0148-7299

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Leber hereditary optic neuropathy: Does
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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

Tissue distribution of the ND4/11778 mut
Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy
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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