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Hereditary cerebellar ataxia with Leber's hereditary optic neuropathy mitochondrial DNA 11778 mutation

✍ Scribed by Tatsufumi Murakami; Shuji Mita; Makoto Tokunaga; Hiroko Maeda; Hidetsugu Ueyama; Toshihide Kumamoto; Makoto Uchino; Masayuki Ando


Book ID
118932541
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
673 KB
Volume
142
Category
Article
ISSN
0022-510X

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Mitochondrial DNA mutation in an Italian
✍ Carla Carducci; Vincenzo Leuzzi; Massimo Scuderi; Anna Maria Negri; Corrado Bala πŸ“‚ Article πŸ“… 1991 πŸ› Springer 🌐 English βš– 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