{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T14:15:37Z","timestamp":1791900937278,"version":"4.3.4"},"reference-count":24,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1978,12]]},"abstract":"<jats:p>A total population study of chronic childhood spinal muscular atrophy (arrested Werdnig-Hoffmann disease, Kugelberg-Welander disease, SMA type II and III) was undertaken in north-east England to establish gene and carrier frequencies, incidence, and prevalence. The incidence of this disease was 1 in 24 100 live births. Prevalence was 1.20 per 100,000 of the general population. A technique for estimating an autosomal recessive gene frequency in the known presence of dominant new mutations (or phenocopies), using data from a segregation analysis, is described. Gene frequency was in the range (0.00451 to 0.00659 (95% confidence limits), with a working estimate of 0.0055. Carrier rates for the autosomal recessive gene concerned were 1 in 76 to 1 in 111 (95%) confidence limits), with a working estimate of 1 in 90 for genetic counselling purposes.<\/jats:p>","DOI":"10.1136\/jmg.15.6.409","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"409-413","source":"Crossref","is-referenced-by-count":396,"title":["Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy."],"prefix":"10.1136","volume":"15","author":[{"given":"J","family":"Pearn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1978,12,1]]},"reference":[{"key":"ref_1","first-page":"98","article-title":"A cliiiical and genetic study of chronic proximal spinal muscular atrophy","author":"Bundey, S.; Lovelace, R.E.","year":"1975","unstructured":"Bundey, S., and Lovelace, R. E. (1975). 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