Article
Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Oct 1990
Stone E M, Coppinger J M, Kardon R H, Donelson J
Abstract excerpt
Leber's hereditary optic neuropathy is a blinding disease that usually causes acute or subacute central visual loss in adolescent and young adult males. In patients who lack a family history of a similar illness, Leber's disease has been a diagnosis of exclusion. The recent discovery of a specific mitochondrial mutation in many pedigrees affected with the disease has provided the basis for rapid molecular...
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