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Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy

โœ Scribed by Zhu, Danping ;Economou, Effrosini P. ;Antonarakis, Stylianos E. ;Maumenee, Irene H.


Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
675 KB
Volume
42
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

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Mitochondrial (mt) DNA from a Southern Italian family with Leber hereditary optic neuropathy was analyzed for the presence of the reported mutation at position 11778 of the ND4 subunit gene. The point mutation was found in mt DNA extracted from peripheral blood in all members of the family with the