| 1 | OADOM, OPA1
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| Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
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| Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, Griffiths PG, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull DM, Chinnery PF, Taylor RW.
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| Brain 131(Pt 2):329-37. Epub 2007 Dec 7.PMID: 18065439 2008
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| 2 | OPA1, OADOM
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| OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.
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| Amati-Bonneau P, Guichet A, Olichon A, Chevrollier A, Viala F, Miot S, Ayuso C, Odent S, Arrouet C, Verny C, Calmels MN, Simard G, Belenguer P, Wang J, Puel JL, Hamel C, Malthiery Y, Bonneau D, Lenaers G, Reynier P.
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| Ann Neurol 58(6):958-63. 2005
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| 3 | OADOM, OPA1
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| Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.
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| Payne M, Yang Z, Katz BJ, Warner JE, Weight CJ, Zhao Y, Pearson ED, Treft RL, Hillman T, Kennedy RJ, Meire FM, Zhang K.
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| Am J Ophthalmol 138(5):749-55. 2004
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| 4 | OADOM, OPA1
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| The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.
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| Amati-Bonneau P, Odent S, Derrien C, Pasquier L, Malthiery Y, Reynier P, Bonneau D.
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| Am J Ophthalmol 136(6):1170-1. 2003
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