Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family.

doi:10.1136/bjo.77.2.84

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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...

Topics

Adolescent
Adult
Ataxia
Base Sequence
DNA, Mitochondrial
Female
Humans
Intellectual Disability
Italy
Molecular Sequence Data
Mutation
Pedigree
Retinitis Pigmentosa

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