{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T11:25:30Z","timestamp":1789385130301,"version":"build-2803163510"},"reference-count":13,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,1]]},"abstract":"<jats:p>We have analysed over 300 patients suffering from Duchenne or Becker muscular dystrophy (DMD or BMD). Deletions have been characterised which encompass either the pERT87 (DXS164) locus only, the XJ1.1 (DXS206) and HIP25 loci only, or all three loci. These loci have been shown to lie within the DMD region covering several hundred kilobases (kb) of DNA. One mildly affected BMD patient possesses a deletion of at least 110 kb including exons of the DMD gene. Other patients with similar exon deletions, or smaller deletions, show the more severe phenotype typical of DMD. We conclude from these studies that the severity of the clinical phenotype cannot be explained on the basis of the size of the deletion. We discuss this in the context of candidate gene sequences.<\/jats:p>","DOI":"10.1136\/jmg.25.1.9","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"9-13","source":"Crossref","is-referenced-by-count":44,"title":["Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome."],"prefix":"10.1136","volume":"25","author":[{"given":"K E","family":"Davies","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T J","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Bundey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A P","family":"Read","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Flint","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Bell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Speer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1988,1,1]]},"reference":[{"key":"ref_1","first-page":"225","article-title":"Phenotypic manifestations of X- autosome translocations","volume-title":"Cytogenetics of the X chromosome","author":"Elejalde, B.R.; Elejalde, M.M.","year":"1983","unstructured":"Elejalde BR, Elejalde MM. Phenotypic manifestations of X- autosome translocations. In: Sandberg AA, ed. Cytogenetics of the X chromosome. New York: Alan R Liss, 1983:225-44."},{"key":"ref_2","first-page":"108","article-title":"Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy. Clin Genet determined","volume":"29","author":"Boyd, Y.; Buckle, V.J.","year":"1986","unstructured":"Boyd Y, Buckle VJ. Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy. Clin Genet determined. 1986;29:108-15."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1038\/318672a0","article-title":"Cloning of the breakpoint of an X; 21 translocation associated with Duchenne muscular dystrophy","volume":"318","author":"Ray, P.N.; Belfall, B.; Duff, C.","year":"1985","unstructured":"Ray PN, Belfall B, Duff C, et al. Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. Nature 1985;318:672-5.","journal-title":"Nature"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/0092-8674(87)90438-7","article-title":"Molecular analysis of the Duchenne muscular dystrophy region using pulsed-field gel electrophoresis","volume":"48","author":"Kenwrick, S.; Patterson, M.N.; Speer, A.","year":"1987","unstructured":"Kenwrick S, Patterson MN, Speer A, et al. Molecular analysis of the Duchenne muscular dystrophy region using pulsed-field gel electrophoresis. Cell 1987;48:351-7.","journal-title":"Cell"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1038\/324582a0","article-title":"Long range restriction map around the Duchenne muscular dystrophy gene using pulsed-field gel electrophoresis","volume":"324","author":"Burmeister, M.; Lehrach, H.","year":"1986","unstructured":"Burmeister M, Lehrach H. Long range restriction map around the Duchenne muscular dystrophy gene using pulsed-field gel electrophoresis. 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J Mol Biol 1975;98: 503-17.","journal-title":"chromosome variants. Proc Natl Acad Sci; J Mol Biol; lx Southern EM. Detection of specific sequences among DNA fragments separated by gel electrophoresis"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1007\/BF00281063","article-title":"Localisation and cloning of deletion breakpoints in Xp2l involved in muscular dystrophy","volume":"75","author":"Monaco, A.P.; Bertelson, C.J.; Colletti-Feneer, C.; Kunkel, L.M.","year":"1987","unstructured":"Monaco AP, Bertelson CJ, Colletti-Feneer C, Kunkel LM. Localisation and cloning of deletion breakpoints in Xp2l involved in muscular dystrophy. Hum Genet 1987;75:221-7.","journal-title":"Hum Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/BF00282079","article-title":"Regional localisation of X chromosome short arm probes","volume":"74","author":"Paulsen, K.; Scherer, Forrest S.; G.","year":"1986","unstructured":"Paulsen K, Forrest S. Scherer G, et al. Regional localisation of X chromosome short arm probes. Hum Genet 1986;74:155-9.","journal-title":"Hum Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1038\/316842a0","article-title":"Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment","volume":"316","author":"Monaco, A.P.; Bertelson, C.J.; Middlesworth, W.","year":"1985","unstructured":"Monaco AP, Bertelson CJ, Middlesworth W, et al. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature 1985;316:842-5.","journal-title":"Nature"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1136\/jmg.23.6.509","article-title":"Molecular deletion analysis in Duchenne muscular dystrophy","volume":"23","author":"Thomas, N.S.T.; Ray, P.N.; Worton, R.G.; Harper, P.S.","year":"1986","unstructured":"Thomas NST, Ray PN, Worton RG, Harper PS. Molecular deletion analysis in Duchenne muscular dystrophy. J Med Genet 1986;23:509-15.","journal-title":"J Med Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1136\/jmg.23.6.516","article-title":"The screening of Duchenne muscular dystrophy patients for submicroscopic deletions","volume":"23","author":"Hart, K.; Cole, C.; Walker, A.","year":"1986","unstructured":"Hart K, Cole C, Walker A, et al. The screening of Duchenne muscular dystrophy patients for submicroscopic deletions. J Med Genet 1986;23:516-20.","journal-title":"J Med Genet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/0168-9525(87)90163-6","article-title":"A giant locus for the Duchenne and Becker muscular dystrophy gene","volume":"3","author":"Monaco, A.P.; Kunkel, L.M.","year":"1987","unstructured":"Monaco AP, Kunkel LM. A giant locus for the Duchenne and Becker muscular dystrophy gene. 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