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Ophthalmic Genetics Volume 39, 2018 - Issue 6
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Research Reports

Ophthalmic manifestations in patients with Leigh syndrome, French Canadian type

Faye PesentiDepartment of Ophthalmology, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Quebec, CanadaCorrespondence[email protected] [email protected]
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,
Erica DoucetDepartment of Ophthalmology, Moncton Hospital, Moncton, New Brunswick, CanadaView further author information
,
Charles MorinDepartment of Paediatrics, Hôpital de Chicoutimi, Chicoutimi, Quebec, CanadaView further author information
&
Marcele FalcaoDepartment of Ophthalmology, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Quebec, CanadaView further author information
Pages 725-727 | Received 19 Sep 2018, Accepted 04 Nov 2018, Published online: 14 Nov 2018

References

  • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: 220111: 03/ 15/2018; http://www.ncbi.nlm.nih.gov/omim/.
  • Morin C, Mitchell G, Larochelle J, Lambert M, Ogier H, Robinson BH, De Braekeleer, M. Clinical, metabolic, and genetic aspects of cytochrome c oxidase deficiency in Saguenay-Lac-Saint-Jean. Am J of Hum Genet. 1993;53:488–96.
  • Debray FG, Morin C, Janvier A, Villeneuve J, Maranda B, Laframboise R, Lacroix J, Decarie JC, Robitaille Y, Lambert M, et al. LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency. J Med Genet. 2011;48:183–89.
  • Han J, Lee YM, Kim SM, Han SY, Lee JB, Han SH. Ophthalmological manifestations in patients with Leigh syndrome. Br J Ophthalmol. 2015;99(4):528–35. doi:10.1136/bjophthalmol-2014-305704.
  • Akebrand R, Anderson S, Honavar AK, Sofou K, Darin N, Tulinius M, Grönlund MA. Ophthalmological characteristics in children with Leigh syndrome – A long-term follow-up. Acta Opthalmol. 2016;94:609–17.

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