A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy.

作者信息

Cardaioli Elena, Gallus Gian Nicola, Da Pozzo Paola, Rufa Alessandra, Franceschini Rossella, Motolese Eduardo, Caporossi Aldo, Dotti Maria T, Federico Antonio

出版信息

J Neurol. 2006 May;253(5):672-3. doi: 10.1007/s00415-005-0057-z. Epub 2005 Dec 12.

DOI:10.1007/s00415-005-0057-z

PMID:16331355

Abstract

摘要

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Mitochondrial dysfunction as a cause of optic neuropathies.

Prog Retin Eye Res. 2004 Jan;23(1):53-89. doi: 10.1016/j.preteyeres.2003.10.003.

Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy.

Br J Ophthalmol. 2003 Jan;87(1):48-53. doi: 10.1136/bjo.87.1.48.

The OPA1 gene and optic neuropathy.

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