PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring

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 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 459 KB 👁 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