Reversible optic neuropathy with OPA1 exon 5b mutation
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Reversible optic neuropathy with OPA1 exon 5b mutation. / Cornille, K.; Milea, D.; Amati-Bonneau, P.; Procaccio, V.; Zazoun, L.; Guillet, V.; Achouri, G. El; Delettre, C.; Gueguen, N.; Loiseau, D.; Muller, A.; Ferre, M.; Chevrollier, A.; Wallace, D.C.; Bonneau, D.; Hamel, C.; Reynier, P.; Lenaers, G.
In: Annals of Neurology, Vol. 63, No. 5, 2008, p. 667-671.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Reversible optic neuropathy with OPA1 exon 5b mutation
AU - Cornille, K.
AU - Milea, D.
AU - Amati-Bonneau, P.
AU - Procaccio, V.
AU - Zazoun, L.
AU - Guillet, V.
AU - Achouri, G. El
AU - Delettre, C.
AU - Gueguen, N.
AU - Loiseau, D.
AU - Muller, A.
AU - Ferre, M.
AU - Chevrollier, A.
AU - Wallace, D.C.
AU - Bonneau, D.
AU - Hamel, C.
AU - Reynier, P.
AU - Lenaers, G.
N1 - Times Cited: 0ArticleEnglishLenaers, GUniv Montpellier 1, Inst Neurosci Montpellier, Inst Natl Sante & Rech Med, U583, BP74103, F-34091 Montpellier 5, FranceCited References Count: 21302HYWILEY-LISSDIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, NJ 07030 USAHOBOKEN
PY - 2008
Y1 - 2008
N2 - 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 Udgivelsesdato: 2008/5
AB - 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 Udgivelsesdato: 2008/5
M3 - Journal article
VL - 63
SP - 667
EP - 671
JO - Annals of Neurology
JF - Annals of Neurology
SN - 0364-5134
IS - 5
ER -
ID: 13858694