Article
Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Apr 1993
Johns D R, Heher K L, Miller N R, Smith K H
Abstract excerpt
OBJECTIVE: To define the clinical features of Leber's hereditary optic neuropathy associated with the 14484 mitochondrial DNA mutation and to compare these features with those associated with three other pathogenetic mutations. DESIGN AND PATIENTS: Clinical and historical data were collected from 19 visually symptomatic patients from 17 independent pedigrees with the molecularly confirmed 14484 mutation. MAIN...
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