{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T16:30:42Z","timestamp":1791045042247,"version":"4.1.0"},"reference-count":17,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,3]]},"abstract":"<jats:p>A family with two male cousins affected with myotubular myopathy (MTM) was referred to us for genetic counselling. Linkage analysis appeared to exclude the Xq28 region. As a gene for X linked MTM was recently identified in Xq28, we screened the obligatory carrier mothers for mutation. We found a 4 bp deletion in exon 4 of the MTM1 gene, which originated from the grandfather of the affected children and which was transmitted to three daughters. This illustrates the importance of mutation detection to avoid pitfalls in linkage analysis that may be caused by such cases of germinal mosaicism.<\/jats:p>","DOI":"10.1136\/jmg.35.3.241","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"241-243","source":"Crossref","is-referenced-by-count":20,"title":["Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity."],"prefix":"10.1136","volume":"35","author":[{"given":"M C","family":"Vincent","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Guiraud-Chaumeil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Laporte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Manouvrier-Hanu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J L","family":"Mandel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1998,3,1]]},"reference":[{"key":"ref_1","first-page":"673","article-title":"The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies","volume":"32","author":"Wallgren-Pettersson, C.; Clarke, A.; Samson, F.","year":"1995","unstructured":"Wallgren-Pettersson C, Clarke A, Samson F, et al. The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. J7 Med Genet 1995;32:673-9."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1136\/jmg.27.5.284","article-title":"X-linked centronuclear\/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci","volume":"27","author":"Thomas, N.; Williams, H.; Cole, G.","year":"1990","unstructured":"Thomas N, Williams H, Cole G, et al. X-linked centronuclear\/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. JMed Genet 1990;27:284-7.","journal-title":"JMed Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1136\/jmg.27.5.288","article-title":"X-linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28","volume":"27","author":"Lehesjoki, A.E.; Sankila, E.; Miao, J.","year":"1990","unstructured":"Lehesjoki AE, Sankila E, Miao J, et al. X-linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28. J Med Genet 1990;27:288-91.","journal-title":"J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/ng0696-175","article-title":"A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast","volume":"13","author":"Laporte, J.; Hu, L.J.; Kretz, C.","year":"1996","unstructured":"Laporte J, Hu LJ, Kretz C, et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 1996;13: 175-82.","journal-title":"Nat Genet"},{"key":"ref_5","first-page":"231","article-title":"Prenatal diagnosis of X-linked myotubular myopathy: strategies using new and tightly linked DNA markers","volume":"16","author":"Hu, U.; Laporte, J.; Kress, W.; Dahl, N.","year":"1996","unstructured":"Hu U, Laporte J, Kress W, Dahl N. Prenatal diagnosis of X-linked myotubular myopathy: strategies using new and tightly linked DNA markers. Prenat Diagn 1996;16:231-7."},{"key":"ref_6","first-page":"120","article-title":"Genetic linkage heterogeneity in myotubular myopathy","volume":"57","author":"Samson, F.; Mesnard, L.; Heimburger, M.","year":"1995","unstructured":"Samson F, Mesnard L, Heimburger M, et al. Genetic linkage heterogeneity in myotubular myopathy. Am J Hum Genet 1995;57:120-6.","journal-title":"Am J Hum Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1038\/329554a0","article-title":"Germline mosaicism and Duchenne muscular dystrophy mutations","volume":"329","author":"Bakker, E.; Van Broeckhoven, C.; Bonten, E.J.","year":"1987","unstructured":"Bakker E, Van Broeckhoven C, Bonten EJ, et al. Germline mosaicism and Duchenne muscular dystrophy mutations. Nature 1987;329:554-6.","journal-title":"Nature"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1136\/jmg.26.9.553","article-title":"Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations","volume":"26","author":"Bakker, E.; Veenema, H.; Den Dunnen, J.T.","year":"1989","unstructured":"Bakker E, Veenema H, Den Dunnen JT, et al. Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations. J Med Genet 1989;26: 553-9.","journal-title":"J Med Genet"},{"key":"ref_9","first-page":"1150","article-title":"Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk","volume":"51","author":"Passos-Bueno, M.R.; Bakker, E.; Kneppers, A.L.","year":"1992","unstructured":"Passos-Bueno MR, Bakker E, Kneppers AL, et al. Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk. Am J Hum Genet 1992;51: 1150-5.","journal-title":"Am J Hum Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1111\/j.1399-0004.1993.tb03811.x","article-title":"Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling","volume":"43","author":"Melis, M.A.; Cau, M.; Congiu, R.; Puddu, R.; Muntoni, F.; Cao, A.","year":"1993","unstructured":"Melis MA, Cau M, Congiu R, Puddu R, Muntoni F, Cao A. Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling. Clin Genet 1993;43:247-9.","journal-title":"Clin Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1056\/NEJM198810133191507","article-title":"Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency","volume":"319","author":"Maddalana, A.; Sosnoski, M.; Berry, G.T.; Nussbaum, R.L.","year":"1988","unstructured":"Maddalana A, Sosnoski M, Berry GT, Nussbaum RL. Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency. NEnglJMed 1988; 319:999-1003.","journal-title":"NEnglJMed"},{"key":"ref_12","first-page":"906","article-title":"Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome","volume":"46","author":"Arveiler, B.; de Saint-Basile, G.; Fischer, A.; Griscelli, C.; Mandel, J.L.","year":"1990","unstructured":"Arveiler B, de Saint-Basile G, Fischer A, Griscelli C, Mandel JL. Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome. Am J Hum Genet 1990;46:906-1 1.","journal-title":"Am J Hum Genet"},{"key":"ref_13","first-page":"443","article-title":"Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency","volume":"95","author":"Puck, J.M.; Pepper, A.E.; Bedard, P.M.; Laframboise, R.","year":"1995","unstructured":"Puck JM, Pepper AE, Bedard PM, Laframboise R. Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency. J Clin Invest 1995;95:443-4.","journal-title":"J Clin Invest"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1136\/jmg.33.3.248","article-title":"Discordant segregation ofXq28 markers and a mutation in the LI gene in a family with X linked hydrocephalus","volume":"33","author":"Jouet, M.; Strain, L.; Bonthron, D.; Kenwrick, S.","year":"1996","unstructured":"Jouet M, Strain L, Bonthron D, Kenwrick S. Discordant segregation ofXq28 markers and a mutation in the LI gene in a family with X linked hydrocephalus. J7 Med Genet 1996;33:248-50.","journal-title":"J7 Med Genet"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1542","DOI":"10.1016\/S0002-9297(07)64249-9","article-title":"A mutation in the MTM1 gene invalidates a previous suggestion of non allelic heterogeneity in X-linked myotubular myopathy","volume":"60","author":"Guiraud-Chaumeil, C.; Vincent, M.C.; Laporte, J.; Fardeau, M.; Samson, F.; Mandel, J.L.","year":"1997","unstructured":"Guiraud-Chaumeil C, Vincent MC, Laporte J, Fardeau M, Samson F, Mandel JL. A mutation in the MTM1 gene invalidates a previous suggestion of non allelic heterogeneity in X-linked myotubular myopathy. Am J Hum Genet 1997;60: 1542-6.","journal-title":"Am J Hum Genet"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1505","DOI":"10.1093\/hmg\/6.9.1505","article-title":"Mutations in the MTM1 gene implicated in X-linked myotubular myopathy","volume":"6","author":"Laporte, J.; Guiraud-Chaumeil, C.; Vincent, M.C.","year":"1997","unstructured":"Laporte J, Guiraud-Chaumeil C, Vincent MC, et al. Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. Hum Mol Genet 1997;6:1505-1 1.","journal-title":"Hum Mol Genet"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1499","DOI":"10.1093\/hmg\/6.9.1499","article-title":"Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy","volume":"6","author":"de Gouyon M; W, Zhao; J, Laporte; JL, Mandel; A, Metzenberg; GE, Herman","year":"1997","unstructured":"de Gouyon M, Zhao W, Laporte J, Mandel JL, Metzenberg A, Herman GE. Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. Hum Mol Genet 1997;6:1499-504.","journal-title":"Hum Mol Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.35.3.241","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:59:51Z","timestamp":1759687191000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.35.3.241"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,3]]},"references-count":17,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1998,3,1]]},"published-print":{"date-parts":[[1998,3]]}},"alternative-id":["10.1136\/jmg.35.3.241"],"URL":"https:\/\/doi.org\/10.1136\/jmg.35.3.241","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,3]]}}}