Article
Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland.
European journal of human genetics : EJHG - 1 Oct 2007
Puomila Anu, Hämäläinen Petra, Kivioja Sanna, Savontaus Marja-Liisa, Koivumäki Satu, Huoponen Kirsi, Nikoskelainen Eeva
Abstract excerpt
We have performed an entire-population-based survey of the epidemiology and penetrance of Leber hereditary optic neuropathy (LHON) in Finland - a country that is among the best-studied genetic isolates in the world. During our long-term clinical follow-up period since 1970, we have so far identified 36 LHON families in Finland, comprised of almost 1000 family members. Counting the unaffected family members has...
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