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3/2013
vol. 115 abstract:
Case report
Leber’s hereditary optic neuropathy – two case reports
Małgorzata Mulak
1
,
Krystian Kisza
1
,
Karolina Dembska
1
,
Marta Misiuk-Hojło
1
Klinika Oczna 2013, 115 (3): 238-241
Online publish date: 2013/09/26
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Aim: The aim of the article is to present 2 cases of LHON revealed in cousins (patients’ mothers were sisters).
Material and methods: They were both diagnosed in the Molecular Medicine Faculty and Department of Ophthalmology, Medical University of Wrocław. Results: Three of the most popular mutations characteristic for Leber’s hereditary optic neuropathy were negative in both patients. Conclusion: The patients might have some rare, wild or unidentified mutations. keywords:
Leber’s hereditary optic neuropathy, mtDNA, LHON |
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POLSKI
