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The Genetics of Leber Hereditary Optic Neuropathy—Prototype of an Inherited Optic Neuropathy with Mitochondrial Dysfunction

✍ Scribed by Eichhorn-Mulligan, Knut; Cestari, Dean M.

Book ID
125836853
Publisher
Informa plc
Year
2008
Tongue
English
Weight
112 KB
Volume
23
Category
Article
ISSN
0882-0538

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Mitochondrial DNA mutation in an Italian
Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy
✍ Carla Carducci; Vincenzo Leuzzi; Massimo Scuderi; Anna Maria Negri; Corrado Bala 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 305 KB

Mitochondrial (mt) DNA from a Southern Italian family with Leber hereditary optic neuropathy was analyzed for the presence of the reported mutation at position 11778 of the ND4 subunit gene. The point mutation was found in mt DNA extracted from peripheral blood in all members of the family with the