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Heteroplasmic mitochondrial tRNALys mutation and its complementation in MERRF patient-derived mitochondrial transformants

✍ Scribed by Dr. Makoto Yoneda; Dr. Tadashi Miyatake; Dr. Giuseppe Attardi

Book ID
102957861
Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
733 KB
Volume
18
Category
Article
ISSN
0148-639X

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πŸ“œ SIMILAR VOLUMES

A novel heteroplasmic point mutation in
A novel heteroplasmic point mutation in the mitochondrial tRNALys gene in a sporadic case of mitochondrial encephalomyopathy: De novo mutation and no transmission to the offspring
✍ Massoud Houshmand; Christopher Lindberg; Ali-Reza Moslemi; Anders Oldfors; Elisa πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 459 KB πŸ‘ 2 views

We have identified a new mutation in the tRNA(Lys) gene of mtDNA, in a 49-year-old patient with mitochondrial encephalomyopathy. The mutation is a heteroplasmic G-->A transition at position 8328, which affects the anticodon stem loop at a conserved site. The mutation was neither found in 100 control