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Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy

โœ Scribed by Nopasak Phasukkijwatana; Wanicha L. Chuenkongkaew; Rungnapa Suphavilai; Komon Luangtrakool; Bussaraporn Kunhapan; Patcharee Lertrit

Book ID
106252065
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
332 KB
Volume
51
Category
Article
ISSN
1435-232X

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Tissue distribution of the ND4/11778 mut
Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy
โœ Vesa Juvonen; Eeva Nikoskelainen; Tarja Lamminen; Maila Penttinen; Pertti Aula; ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 164 KB ๐Ÿ‘ 1 views

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

Leber hereditary optic neuropathy: Does
Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?
โœ Chinnery, Patrick F. ;Andrews, Richard M. ;Turnbull, Douglass M. ;Howell, Neil ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 209 KB ๐Ÿ‘ 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

Detection of the G to A mitochondrial DN
Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy
โœ B. A. Kormann; H. Schuster; T. A. Berninger; B. Leo-Kottler ๐Ÿ“‚ Article ๐Ÿ“… 1991 ๐Ÿ› Springer ๐ŸŒ English โš– 342 KB

Leber's hereditary optic neuropathy (LHON) is characterized by acute or subacute bilateral (usually permanent) loss of central vision, caused by neuroretinal degeneration. The maternal inheritance is explained by the mitochondrial origin of the disease. Recently, a single mitochondrial DNA (mtDNA) m