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Reversible optic neuropathy with OPA1 exon 5b mutation

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • K. Cornille
  • Milea, Dan
  • P. Amati-Bonneau
  • V. Procaccio
  • L. Zazoun
  • V. Guillet
  • G. El Achouri
  • C. Delettre
  • N. Gueguen
  • D. Loiseau
  • A. Muller
  • M. Ferre
  • A. Chevrollier
  • D.C. Wallace
  • D. Bonneau
  • C. Hamel
  • P. Reynier
  • G. Lenaers
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
OriginalsprogEngelsk
TidsskriftAnnals of Neurology
Vol/bind63
Udgave nummer5
Sider (fra-til)667-671
Antal sider4
ISSN0364-5134
StatusUdgivet - 2008

Bibliografisk note

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

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