Original paper
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier
Abstract
The genetic diagnosis in inherited optic neuropathies often remains challenging, and the emergence of complex neurological phenotypes that involve optic neuropathy is puzzling. Here we unravel two novel principles of genetic mechanisms in optic neuropathies: deep intronic OPA1 mutations, which explain the disease in several so far unsolved cases; and an intralocus OPA1 modifier, which explains the emergence of syndromic ‘optic atrophy plus’...
Paper Details
Title
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier
Published Date
Jun 25, 2014
Journal
Volume
137
Issue
8
Pages
2164 - 2177
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