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An unusual family with Leber's hereditary optic neuropathy and facioscapulohumeral muscular dystrophy

✍ Scribed by W.L. Chuenkongkaew; P. Lertrit; C. Limwongse; Y. Nilanont; K. Boonyapisit; T. Sangruchi; N. Chirapapaisan; R. Suphavilai

Book ID
111064272
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
146 KB
Volume
12
Category
Article
ISSN
1351-5101

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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 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