The epidemiology of pathogenic mitochondrial DNA mutations

During the past decade, there have been many descriptions of patients with neurological disorders due to mitochondrial DNA (mtDNA) mutations, but the extent and spectrum of mtDNA disease in the general population have not yet been defined. Adults with suspected mtDNA disease in the North East of Eng...

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Bibliographic Details
Published in:Annals of neurology 2000-08, Vol.48 (2), p.188-193
Main Authors: Chinnery, P. F., Johnson, M. A., Wardell, T. M., Singh-Kler, R., Hayes, C., Brown, D. T., Taylor, R. W., Bindoff, L. A., Turnbull, D. M.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Child
Child, Preschool
DNA, Mitochondrial - genetics
Errors of metabolism
Female
Genotype
Humans
Male
Medical sciences
Metabolic diseases
Middle Aged
Miscellaneous hereditary metabolic disorders
Optic Atrophies, Hereditary - epidemiology
Optic Atrophies, Hereditary - genetics
Phenotype
Point Mutation - genetics
Prevalence
Risk Factors
United Kingdom
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Summary:During the past decade, there have been many descriptions of patients with neurological disorders due to mitochondrial DNA (mtDNA) mutations, but the extent and spectrum of mtDNA disease in the general population have not yet been defined. Adults with suspected mtDNA disease in the North East of England were referred to a single neurology center for investigation over the 10‐year period from 1990 to 1999 inclusive. We defined the genetic defect in these individuals. For the midyear period of 1997, we calculated the minimum point prevalence of mtDNA disease in the adults of working age (>16–
ISSN:0364-5134
1531-8249
DOI:10.1002/1531-8249(200008)48:2<188::AID-ANA8>3.0.CO;2-P