The epidemiology of pathogenic mitochondrial DNA mutations.
作者： P. F. Chinnery , M. A. Johnson , T. M. Wardell , R. Singh-Kler , C. Hayes
DOI: 10.1002/1531-8249(200008)48:2<188::AID-ANA8>3.0.CO;2-P
关键词: Epidemiology 、 Internal medicine 、 Neurology 、 Medicine 、 Population 、 Genetic counseling 、 Mitochondrial DNA 、 Disease 、 Prevalence 、 Genotype 、 Genetics
摘要: During the past decade, there have been many descriptions of patients with neurological disorders due to mitochondrial DNA (mtDNA) mutations, but extent and spectrum mtDNA disease in general population not yet defined. Adults suspected North East England were referred a single neurology center for investigation over 10-year period from 1990 1999 inclusive. We defined genetic defect these individuals. For midyear 1997, we calculated minimum point prevalence adults working age (> 16-<60 years old female subjects <65 male subjects) children (<60 subjects, at risk developing disease. defects caused 6.57 per 100,000 individuals adult age, 7.59 unaffected Overall, 12.48 child either had or These results reflect pathogenic mutations demonstrate that are common cause chronic morbidity. findings resource implications, particularly supportive care counseling.
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