{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:10:59Z","timestamp":1760767859784,"version":"build-2065373602"},"reference-count":21,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1987,3]]},"abstract":"<jats:p>A total of 278 families of probands with Duchenne or Becker muscular dystrophy has been ascertained and offered genetic counselling. Linkage studies have been performed in these families using polymorphic DNA markers identifying loci linked to Duchenne and Becker muscular dystrophy. The clinical features of the probands are discussed: there was marked intrafamilial resemblance in the severity of the disease. We estimate that a complete study of potential carriers in these families would require analysis of samples from approximately 1400 subjects. The results of linkage studies tended to move women's carrier risk estimates (based on CK and pedigree data) towards the extremes of the risk categories, providing a more definitive risk estimate for 81% of the women who were previously in the middle range of carrier risk probabilities. About 70% of the families had only one affected member. Linkage analysis altered carrier risk estimates in 95% of sisters and aunts of index cases, but only affected estimates of the mother's carrier risks in about 11% of isolated cases. Even where linkage studies were not helpful in elucidating carrier risks, information could usually be obtained for use in prenatal diagnosis if required. We have assessed the attitudes to pregnancy and prenatal diagnosis of women at risk of being carriers of Duchenne or Becker muscular dystrophy and report 17 pregnancies in these women.<\/jats:p>","DOI":"10.1136\/jmg.24.3.152","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"152-159","source":"Crossref","is-referenced-by-count":16,"title":["The application of linkage analysis to genetic counselling in families with Duchenne or Becker muscular dystrophy."],"prefix":"10.1136","volume":"24","author":[{"given":"S","family":"Hodgson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Walker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Cole","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Hart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Heckmatt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Dubowitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Bobrow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1987,3,1]]},"reference":[{"key":"ref_1","first-page":"19","article-title":"Muscle disorders in childhood. Major problems in clinical pediatrics. Vol 16","author":"Dubowitz, V.","year":"1978","unstructured":"Dubowitz V. Muscle disorders in childhood. Major problems in clinical pediatrics. Vol 16. Philadelphia: Saunders, 1978:19-69."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1001\/archneur.1969.00480110015001","article-title":"Mild and severe forms of X-linked muscular dystrophy","volume":"20","author":"Shaw, R.F.; Dreifuss, F.E.","year":"1969","unstructured":"Shaw RF, Dreifuss FE. Mild and severe forms of X-linked muscular dystrophy. Arch Neurol 1969;20:451-60.","journal-title":"Arch Neurol"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1111\/j.1399-0004.1976.tb00033.x","article-title":"Clinical studies in benign (Beckertype) X-linked muscular dystrophy","volume":"10","author":"Emery, A.E.H.; Skinner, R.","year":"1976","unstructured":"Emery AEH, Skinner R. Clinical studies in benign (Beckertype) X-linked muscular dystrophy. 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