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OPA3--related autosomal dominant optic atrophy and cataract with ataxia and areflexia.

AuthorsX Ayrignac, C Liauzun, G Lenaers, D Renard, P Amati-Bonneau, J de Sèze, H Dollfus, C Hamel, D Bonneau, P Labauge
JournalEuropean neurology (Eur Neurol) Vol. 68 Issue 2 Pg. 108-10 ( 2012) ISSN: 1421-9913 [Electronic] Switzerland
PMID22797356 (Publication Type: Case Reports, Letter)
Chemical References
  • OPA3 protein, human
  • Proteins
Topics
  • Adult
  • Ataxia (complications, genetics)
  • Cataract (complications, genetics)
  • Female
  • Humans
  • Male
  • Middle Aged
  • Optic Atrophy, Autosomal Dominant (complications, genetics)
  • Proteins (genetics)
  • Reflex, Abnormal (genetics)

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