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. 1992:243:139-46.

Leber's hereditary optic neuropathy: clinical and molecular genetic aspects. Preliminary results in our families

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  • PMID: 1302143

Leber's hereditary optic neuropathy: clinical and molecular genetic aspects. Preliminary results in our families

E Van Caelenberghe et al. Bull Soc Belge Ophtalmol. 1992.

Abstract

Leber's hereditary optic neuropathy (LHON) is a genetic maternally transmitted disorder characterised by sudden bilateral loss of vision. The discovery of at least one mitochondrial DNA mutation associated with the disease has provided the basis for a molecular diagnosis in about 50% of families with LHON. We present a brief review of the clinical and molecular genetic aspects of LHON along with our results in 13 patients.

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