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Comment
. 2014 Oct;137(Pt 10):e302.
doi: 10.1093/brain/awu187. Epub 2014 Jul 10.

Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

Patrick Yu-Wai-Man  1 , Patrick F Chinnery  2
Affiliations
Comment

Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

Patrick Yu-Wai-Man et al. Brain. 2014 Oct.
No abstract available

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Comment on

  • Heterozygous OPA1 mutations in Behr syndrome.
    Marelli C, Amati-Bonneau P, Reynier P, Layet V, Layet A, Stevanin G, Brissaud E, Bonneau D, Durr A, Brice A. Marelli C, et al. Brain. 2011 Apr;134(Pt 4):e169; author reply e170. doi: 10.1093/brain/awq306. Epub 2010 Nov 26. Brain. 2011. PMID: 21112924 No abstract available.

References

    1. Alavi MV, Bette S, Schimpf S, Schuettauf F, Schraermeyer U, Wehrl HF, et al. A splice site mutation in the murine OpaI gene features pathology of autosomal dominant optic atrophy. Brain. 2007;130:1029–42. - PubMed
    1. Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissiere A, et al. OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes. Brain. 2008;131:338–51. - PubMed
    1. Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet. 2001;69:1218–24. - PMC - PubMed
    1. Behr C. Die komplizierte, hereditar-familiare optikusatrophie des kindesalters: ein bisher nicht beschriebener symptomkomplex. Klin Monbl Augenheilkd. 1909;47:138–60.
    1. Bonneau D, Colin E, Oca F, Ferré M, Chevrollier A, Guéguen N, et al. Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. Brain. 2014 - PubMed

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