title: Single-gene neurological disorders in South Wales: an epidemiological study.
abstract: Single-gene neurological disorders account for a significant proportion of the work load of any regional genetics unit. In an attempt to assess the likely impact of recombinant DNA technology on these debilitating diseases, a population prevalence study of the major neurogenetic diseases was carried out in the South Wales region of Great Britain. The minimum overall prevalence of these disorders was estimated to be 58.6/100,000 population.
authors.affiliation: Institute of Medical Genetics for Wales, University of Wales College of Medicine, Heath Park, Cardiff, United Kingdom.
authors.forename: J C
authors.initials: JC
authors.lastname: MacMillan
authors.forename: P S
authors.initials: PS
authors.lastname: Harper
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005190:Family; D005260:Female; D006801:Humans; D015994:Incidence; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000453:epidemiology* / Q000235:genetics; D009136:Muscular Dystrophies / Q000453:epidemiology / Q000235:genetics; D015995:Prevalence; D012189:Retrospective Studies; D006113:United Kingdom / Q000453:epidemiology