Article
[Leber's optic neuropathy: new diagnostic prospects].
Journal francais d'ophtalmologie - 1 Jan 1992
Pagot V, Malecaze F, Rötig A, Simorre V, Maillard P, Mathis A, Munnich A
Abstract excerpt
The diagnosis of Leber's hereditary optic neuropathy, essentially based on a family history of a similar illness, becomes difficult in sporadic cases. In this disease, mitochondrial DNA mutations have been recently discovered and detected by digestion with restriction enzyme after amplification by the Polymerase Chain Reaction. We present two patients in whom these molecular biological techniques confirmed the...
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