The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England

We performed the first population-based clinical and molecular genetic study of Leber hereditary optic neuropathy (LHON) in a population of 2,173,800 individuals in the North East of England. We identified 16 genealogically unrelated families who harbor one of the three primary mitochondrial DNA (mt...

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Veröffentlicht in:	American journal of human genetics 2003-02, Vol.72 (2), p.333-339
Hauptverfasser:	Man, P.Y.W., Griffiths, P.G., Brown, D.T., Howell, N., Turnbull, D.M., Chinnery, P.F.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age of Onset Biological and medical sciences Diseases of visual field, optic nerve, optic chiasma and optic tracts DNA, Mitochondrial - blood DNA, Mitochondrial - genetics England - epidemiology Female Founder Effect Genetic Linkage Humans Male Medical sciences Middle Aged Mutation Ophthalmology Optic Atrophy, Hereditary, Leber - diagnosis Optic Atrophy, Hereditary, Leber - epidemiology Optic Atrophy, Hereditary, Leber - etiology Optic Atrophy, Hereditary, Leber - physiopathology Pedigree Penetrance Prevalence Prospective Studies Sex Factors
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