{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T08:00:57Z","timestamp":1778832057721,"version":"3.51.4"},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[1992,2,1]],"date-time":"1992-02-01T00:00:00Z","timestamp":696902400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"published-print":{"date-parts":[[1992,2]]},"DOI":"10.1007\/bf01958954","type":"journal-article","created":{"date-parts":[[2005,7,28]],"date-time":"2005-07-28T23:04:46Z","timestamp":1122591886000},"page":"112-116","source":"Crossref","is-referenced-by-count":11,"title":["Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy"],"prefix":"10.1007","volume":"151","author":[{"given":"T.","family":"Voit","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Neuen-Jacob","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Mahler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Jauch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Cremer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"BF01958954_CR1","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1056\/NEJM198901193200302","volume":"320","author":"K Arahata","year":"1989","unstructured":"Arahata K, Ishihara T, Kamakura K, Tsukahara T, Ishiura S, Baba C, Matsumoto T, Nonaka I, Sugita H (1989) Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy. N Engl J Med 320:138\u2013142","journal-title":"N Engl J Med"},{"key":"BF01958954_CR2","doi-asserted-by":"crossref","first-page":"7154","DOI":"10.1073\/pnas.86.18.7154","volume":"86","author":"K Arahata","year":"1989","unstructured":"Arahata K, Hoffman EP, Kunkel LM, Ishiura S, Tsukahara T, Ishihara T, Sunohara N, Nonaka I, Ozawa E, Sugita (1989) Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses. Proc Natl Acad Sci USA 86:7154\u20137158","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF01958954_CR3","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1038\/329554a0","volume":"329","author":"E Bakker","year":"1987","unstructured":"Bakker E, Broeckhoven C van, Bonten EJ, De Vooren MJ van, Veenema H, Hul W van, Ommen GJB van, Vandenberghe A, Pearson PL (1987) Germline mosaicism and Duchenne muscular dystrophy mutations. Nature 329:554\u2013556","journal-title":"Nature"},{"key":"BF01958954_CR4","first-page":"A93","volume":"41","author":"NT Bech-Hansen","year":"1987","unstructured":"Bech-Hansen NT, Starozik DM, Dimnik L, Hoar DI, Meschino W (1987) Interstitial deletion and male gonadal mosaicism as the basis for Duchenne muscular dystrophy. Am J Med Genet 41:A93","journal-title":"Am J Med Genet"},{"key":"BF01958954_CR5","doi-asserted-by":"crossref","first-page":"5611","DOI":"10.1093\/nar\/17.14.5611","volume":"17","author":"LAJ Blonden","year":"1989","unstructured":"Blonden LAJ, Den Dunnen JT, Paasen HMB van, Wapenaar MC, Grootscholten PM, Ginjaar HB, Bakker E, Pearson PL, Ommen GJB van (1989) High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization. Nucleic Acids Res 17:5611\u20135621","journal-title":"Nucleic Acids Res"},{"key":"BF01958954_CR6","first-page":"440","volume":"133","author":"E Bonilla","year":"1988","unstructured":"Bonilla E, Schmidt E, Samitt CE, Miranda AF, Hays AP, De Oliveira ABS, Chang HW, Servidei S, Ricci E, Younger DS, DiMauro S (1988) Normal and dystrophin-deficient muscle fibers in carriers of the gene for Duchenne muscular dystrophy. Am J Pathol 133:440\u2013445","journal-title":"Am J Pathol"},{"key":"BF01958954_CR7","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1038\/329556a0","volume":"329","author":"BT Darras","year":"1987","unstructured":"Darras BT, Francke U (1987) A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male. Nature 329:556\u2013558","journal-title":"Nature"},{"key":"BF01958954_CR8","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1002\/ajmg.1320290341","volume":"29","author":"BT Darras","year":"1988","unstructured":"Darras BT, Koenig M, Kunkel LM, Francke U (1988) Direct method for prenatal diagnosis and carrier detection in Duchenne\/Becker muscular dystropyh using the entire dystropnin cDNA. Am J Med Genet 29:713\u2013726","journal-title":"Am J Med Genet"},{"key":"BF01958954_CR9","first-page":"336","volume-title":"Muscle biopsy. A practical approach","author":"V Dubowitz","year":"1985","unstructured":"Dubowitz V (1985) Muscle biopsy. A practical approach, 2nd edn. Baill\u00e8re Tindall, London p 336","edition":"2nd edn"},{"key":"BF01958954_CR10","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1136\/jmg.23.6.521","volume":"23","author":"JH Edwards","year":"1986","unstructured":"Edwards JH (1986) The population genetics of Duchenne: natural and artificial selection in Duchenne muscular dystrophy. J Med Genet 23:521\u2013530","journal-title":"J Med Genet"},{"key":"BF01958954_CR11","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1111\/j.1469-1809.1989.tb01120.x","volume":"53","author":"JH Edwards","year":"1989","unstructured":"Edwards JH (1989) Familiarity, recessivity and germline mosaicism. Ann Hum Genet 53:33\u201347","journal-title":"Ann Hum Genet"},{"key":"BF01958954_CR12","first-page":"507","volume":"45","author":"EF Gillard","year":"1989","unstructured":"Gillard EF, Chamberlain JS, Murphy EG, Duff CL, Smith B, Burghes AHM, Thompson MW, Sutherland J, Oss I, Bodrug SE, Klamut HJ, Ray PN, Worton RG (1989) Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Am J Hum Genet 45:507\u2013520","journal-title":"Am J Hum Genet"},{"key":"BF01958954_CR13","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1016\/0896-6273(89)90226-2","volume":"2","author":"EP Hoffman","year":"1989","unstructured":"Hoffman EP, Kunkel LM (1989) Dystrophin abnormalities in Duchenne\/Becker muscular dystrophy. Neuron 2:1019\u20131029","journal-title":"Neuron"},{"key":"BF01958954_CR14","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1016\/0092-8674(87)90579-4","volume":"51","author":"EP Hoffman","year":"1987","unstructured":"Hoffman EP, Brown RH, Kunkel LM (1987) Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51:919\u2013928","journal-title":"Cell"},{"key":"BF01958954_CR15","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1056\/NEJM198805263182104","volume":"318","author":"EP Hoffman","year":"1988","unstructured":"Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, Harris JB, Waterston R, Brooke M, Specht L, Kupsky W, Chamberlain J, Caskey T, Shapiro F, Kunkel LM (1988) Characterization of dystrophin in muscle-biospy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 318:1363\u20131368","journal-title":"N Engl J Med"},{"key":"BF01958954_CR16","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1212\/WNL.39.8.1011","volume":"39","author":"EP Hoffman","year":"1989","unstructured":"Hoffman EP, Kunkel LM, Angelini C, Clarke A, Johnson M, Harris JB (1989) Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology 39:1011\u20131017","journal-title":"Neurology"},{"key":"BF01958954_CR17","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/0092-8674(87)90504-6","volume":"50","author":"M Koenig","year":"1987","unstructured":"Koenig M, Hoffmann EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM (1987) Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50:509\u2013517","journal-title":"Cell"},{"key":"BF01958954_CR18","first-page":"138","volume":"41","author":"JT Lanman","year":"1987","unstructured":"Lanman JT, Pericac-Vance MA, Bartlett RJ, Chen JC, Yamaoka L, Koh J, Speer MC, Hung WJ, Roses AD (1987) Familial inheritance of a DXS164 deletion mutation from a heterozygous female. Am J Hum Genet 41:138\u2013144","journal-title":"Am J Hum Genet"},{"key":"BF01958954_CR19","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/ajmg.1320370206","volume":"37","author":"RV Lebo","year":"1990","unstructured":"Lebo RV, Olney RK, Golbus MS (1990) Somatic mosaicism at the Duchenne locus. Am J Med Genet 37:187\u2013190","journal-title":"Am J Med Genet"},{"key":"BF01958954_CR20","doi-asserted-by":"crossref","first-page":"9664","DOI":"10.1073\/pnas.85.24.9664","volume":"85","author":"P Lichter","year":"1988","unstructured":"Lichter P, Cremer T, Tang C-J C, Watkins PC, Manuelidis L, Ward DC, Ward DC (1988) Rapid detection of human chromosome 21 aberrations by in situ hybridization. Proc Natl Acad Sci USA 85:9664\u20139668","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF01958954_CR21","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1126\/science.3055295","volume":"242","author":"SB Malhotra","year":"1988","unstructured":"Malhotra SB, Hart KA, Klamut HJ, Thomas NST, Bodrug SE, Burghes AHM, Bobrow M, Harper PS, Thompson MW, Ray PN, Worton RG (1988) Frame-shift deletion in patients with Duchenne and Becker muscular dystrophy. Science 242:755\u2013759","journal-title":"Science"},{"key":"BF01958954_CR22","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1007\/BF00293903","volume":"81","author":"Y Mao","year":"1989","unstructured":"Mao Y, Cremer M (1989) Detection of Duchenne muscular dystrophy carriers by dosage analysis using the DMD cDNA clone 8. Hum Genet 81:193\u2013195","journal-title":"Hum Genet"},{"key":"BF01958954_CR23","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1038\/316842a0","volume":"316","author":"AP Monaco","year":"1985","unstructured":"Monaco AP, Bertelson CJ, Middlesworth W, Colletti CA, Aldridge J, Fischbeck KH, Bartlett R, Pericak-Vance MA, Roses AD, Kunkel LM (1985) Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature 316:842\u2013845","journal-title":"Nature"},{"key":"BF01958954_CR24","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1007\/BF00281063","volume":"75","author":"AP Monaco","year":"1987","unstructured":"Monaco AP, Bertelson CJ, Coletti-Feener C, Kunkel LM (1987) Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy. Hum Genet 75:221\u2013227","journal-title":"Hum Genet"},{"key":"BF01958954_CR25","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/0888-7543(88)90113-9","volume":"2","author":"AP Monaco","year":"1988","unstructured":"Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM (1988) An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2:90\u201395","journal-title":"Genomics"},{"key":"BF01958954_CR26","first-page":"231A","volume":"98S","author":"M Mora","year":"1990","unstructured":"Mora M, Gussoni E, Morandi L, Gebbia M, Cornelio F (1990) Evaluation of dystrophin expression in BMD carriers. J Neurol Sci 98S:231A","journal-title":"J Neurol Sci"},{"key":"BF01958954_CR27","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1002\/ana.410280512","volume":"28","author":"L Morandi","year":"1990","unstructured":"Morandi L, Mora M, Gussoni E, Tedeschi S, Cornelio F (1990) Dystrophin analysis in Duchenne and Becker muscular dystropyh carriers: correlation with intracellular calcium and albumin. Ann Neurol 28:674\u2013679","journal-title":"Ann Neurol"},{"key":"BF01958954_CR28","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/BF00275183","volume":"66","author":"H Moser","year":"1984","unstructured":"Moser H (1984) Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention. Hum Genet 66:17\u201340","journal-title":"Hum Genet"},{"key":"BF01958954_CR29","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/0022-510X(89)90224-4","volume":"94","author":"LVB Nicholson","year":"1989","unstructured":"Nicholson LVB, Davison K, Johnson M, Slater CR, Young C, Bhattacharia S, Gardner-Medwin D, Harris B (1989) Dystrophin in skeletal muscle II. Immunoreactivity in patients with Xp21 muscular dystrophy. J Neurol Sci 94:137\u2013146","journal-title":"J Neurol Sci"},{"key":"BF01958954_CR30","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1007\/BF00294640","volume":"80","author":"LVB Nicholson","year":"1990","unstructured":"Nicholson LVB, Johnson MA, Gardner-Medwin D, Bhattacharya S, Harris JB (1990) Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta Neuropathol 80:239\u2013250","journal-title":"Acta Neuropathol"},{"key":"BF01958954_CR31","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/0022-510X(88)90256-0","volume":"87","author":"K Patel","year":"1988","unstructured":"Patel K, Voit T, Dunn MJ, Strong PN, Dubowitz V (1988) Dystrophin and nebulin in the muscular dystrophies. J Neurol Sci 87:315\u2013326","journal-title":"J Neurol Sci"},{"key":"BF01958954_CR32","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1007\/BF00193578","volume":"85","author":"T Ried","year":"1990","unstructured":"Ried T, Mahler M, Vogt P, Blonden L, Ommen GJB van, Cremer T, Cremer M (1990) Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne\/ Becker muscular dystrophy locus. Hum Genet 85:581\u2013586","journal-title":"Hum Genet"},{"key":"BF01958954_CR33","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/0022-510X(89)90022-1","volume":"89","author":"T Voit","year":"1989","unstructured":"Voit T, Patel K, Dunn MJ, Dubowitz V, Strong PN (1989) Distribution of dystrophin, nebulin and Ricinus communis I (RCA I)-binding glycoprotein in tissues of normal and mdx mice. J Neurol Sci 89:199\u2013211","journal-title":"J Neurol Sci"},{"key":"BF01958954_CR34","doi-asserted-by":"crossref","unstructured":"Witkowski R (1991) Germinal \u201cmosaicism\u201d-germline mutation or chimerism? Hum Genet (in press)","DOI":"10.1007\/BF00197278"},{"key":"BF01958954_CR35","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1007\/BF00291677","volume":"78","author":"S Wood","year":"1988","unstructured":"Wood S, McGillivray BC (1988) Germinal mosaicism in Duchenne muscular dystrophy. Hum Genet 78:282\u2013284","journal-title":"Hum Genet"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF01958954.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF01958954\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF01958954","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,8]],"date-time":"2020-04-08T11:53:04Z","timestamp":1586346784000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF01958954"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,2]]},"references-count":35,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1992,2]]}},"alternative-id":["BF01958954"],"URL":"https:\/\/doi.org\/10.1007\/bf01958954","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,2]]}}}