{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T08:51:52Z","timestamp":1781081512268,"version":"3.54.1"},"reference-count":10,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1985,8]]},"abstract":"<jats:p>Complete ascertainment of adult onset limb-girdle muscular dystrophy in the Lothian Region of Scotland was attempted. Ten index cases were identified giving a prevalence of 1.3 per 100 000 (0.9 per 100 000 for cases where the diagnosis of muscular dystrophy was supported by both electromyographic and muscle biopsy findings). In these 10 sibships there had been 11 affected subjects, significantly less than the 16.5 cases expected for autosomal recessive inheritance. Excluding cases suspected of being Becker muscular dystrophy, the prevalence was 0.7 per 100 000 (0.3 per 100 000 for proven cases of muscular dystrophy) and there remained a significant difference between the number of cases observed (5) and the number expected (9.1) for autosomal recessive inheritance. The prevalence of limb-girdle muscular dystrophy with onset in adult life has apparently declined over the past 30 years, as would be expected with the recognition of other conditions which cause the same pattern of weakness, making this a relatively rare disorder which should only be considered when other diagnoses have been excluded. The possibility that some cases diagnosed as limb-girdle muscular dystrophy may have had Becker muscular dystrophy emphasises the urgent need for a greater understanding of the biochemical basis of these conditions so that such diagnostic and genetic counselling dilemmas can be resolved.<\/jats:p>","DOI":"10.1136\/jmg.22.4.250","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"250-257","source":"Crossref","is-referenced-by-count":28,"title":["A population study of adult onset limb-girdle muscular dystrophy."],"prefix":"10.1136","volume":"22","author":[{"given":"J R","family":"Yates","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A E","family":"Emery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1985,8,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1093\/brain\/77.2.169","article-title":"On the classification. natural history and treatment of the myopathies","volume":"77","author":"Walton, J.N.; Nattrass, F.J.","year":"1954","unstructured":"Walton JN, Nattrass FJ. On the classification. natural history and treatment of the myopathies. Brain 1954;77:169-23i.","journal-title":"Brain"},{"key":"ref_2","article-title":"Annual Report of the Registrar General for Scotland","year":"1979","unstructured":"Annual Report of the Registrar General for Scotland 1979."},{"key":"ref_3","article-title":"E\"IdEimnebruyrgAhE: H. HMSMeOt, hod1o9l8o1.gs in medical genietics","year":"1976","unstructured":"E\"IdEimnebruyrgAhE:H.HMSMeOt,hod1o9l8o1.gs in medical genietics. Edinburgh: Churchill Livingstone, 1976."},{"issue":"0 7","key":"ref_4","first-page":"271","article-title":"Clinical studies in benign (Becker type) X-linked muscular dystrophy","volume":"1892","author":"Emery, A.E.H.; Skinner, R.","year":"1976","unstructured":"Emery AEH, Skinner R. Clinical studies in benign (Becker type) X-linked muscular dystrophy. Clin Getiet 1976;10:1892()0 7 Moser H, Emery AEH. The manifesting carrier in Duchenne muscular dystrophy. Clin Genet 1974;5:271-84.","journal-title":"Clin Getiet; The manifesting carrier in Duchenne muscular dystrophy"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1136\/jmg.15.2.116","article-title":"Unusual inheritance of Becker type muscular dystrophy","volume":"15","author":"Aguilar, L.; Lisker, R.; Ramos, G.G.","year":"1978","unstructured":"Aguilar L, Lisker R, Ramos GG. Unusual inheritance of Becker type muscular dystrophy. J Med Genet 1978;15:116-8.","journal-title":"J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1136\/jmg.12.2.131","article-title":"The detection of carriers of benign (Becker type) X linked muscular dystrophy","volume":"12","author":"Skinner, R.; Emery, A.E.H.; Anderson, A.J.B.; Foxall, C.","year":"1975","unstructured":"Skinner R, Emery AEH, Anderson AJB, Foxall C. The detection of carriers of benign (Becker type) X linked muscular dystrophy. 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Ann Hum Genet 1955;20:1-38.","journal-title":"Ann Hum Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1111\/j.1399-0004.1982.tb02074.x","article-title":"Prevalence and incidence of muscular dystrophy in Alberta, Canada","volume":"21","author":"Monckton, G.; Hoskin, V.; Warren, S.","year":"1982","unstructured":"Monckton G, Hoskin V, Warren S. Prevalence and incidence of muscular dystrophy in Alberta, Canada. Clin Genet 1982;21:19-24.","journal-title":"Clin Genet"},{"key":"ref_10","first-page":"360","article-title":"Formal genetics of muscular dystrophy","volume":"11","author":"Morton, N.E.; Chung, C.S.","year":"1959","unstructured":"Morton NE, Chung CS. Formal genetics of muscular dystrophy. Am J Hum Genet 1959;11:360-79.","journal-title":"Am J Hum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.22.4.250","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T16:58:47Z","timestamp":1760720327000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.22.4.250"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,8]]},"references-count":10,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1985,8,1]]},"published-print":{"date-parts":[[1985,8]]}},"alternative-id":["10.1136\/jmg.22.4.250"],"URL":"https:\/\/doi.org\/10.1136\/jmg.22.4.250","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,8]]}}}