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Reversible optic neuropathy with OPA1 exon 5b mutation.

Abstract : A new c.740G>A (R247H) mutation in OPA1 alternate spliced exon 5b was found in a patient presenting with bilateral optic neuropathy followed by partial, spontaneous visual recovery. R247H fibroblasts from the patient and his unaffected father presented unusual highly tubular mitochondrial network, significant increased susceptibility to apoptosis, oxidative phosphorylation uncoupling, and altered OPA1 protein profile, supporting the pathogenicity of this mutation. These results suggest that the clinical spectrum of the OPA1-associated optic neuropathies may be larger than previously described, and that spontaneous recovery may occur in cases harboring an exon 5b mutation.
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https://www.hal.inserm.fr/inserm-00287509
Contributor : Christian Hamel <>
Submitted on : Thursday, June 12, 2008 - 9:42:54 AM
Last modification on : Thursday, June 4, 2020 - 4:06:08 PM
Long-term archiving on: : Friday, November 25, 2016 - 9:58:37 PM

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Karen Cornille, Dan Milea, Patrizia Amati-Bonneau, Vincent Procaccio, Lydie Zazoun, et al.. Reversible optic neuropathy with OPA1 exon 5b mutation.. Annals of Neurology, Wiley, 2008, 63 (5), pp.667-71. ⟨10.1002/ana.21376⟩. ⟨inserm-00287509⟩

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