Article
Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family.
The British journal of ophthalmology - 1 Feb 1993
Puddu P, Barboni P, Mantovani V, Montagna P, Cerullo A, Bragliani M, Molinotti C, Caramazza R
Abstract excerpt
An Italian pedigree including two sisters and their mother affected by a neuro-ophthalmic disease characterised by retinitis pigmentosa, ataxia, and psychomotor retardation is reported. Molecular analysis of mitochondrial DNA showed the presence of heteroplasmic 8993 point mutation in the subunit 6 of the ATPase gene. The clinical features and genetic findings in this family were comparable with those recently...
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