{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T19:48:15Z","timestamp":1791316095689,"version":"4.3.1"},"reference-count":36,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,9]]},"abstract":"<jats:p>Facioscapulohumeral muscular dystrophy (FSHD) is a progressive hereditary neuromuscular disorder, transmitted in an autosomal dominant fashion. Its clinical expression is highly variable, ranging from almost asymptomatic subjects to wheelchair dependent patients. The molecular defect has been linked to chromosome 4q35 markers and has been related to deletions of tandemly repeated sequences located in the subtelomeric region detected by probe p13E-11 (D4F104S1). We describe a pair of monozygotic male twins affected by FSHD, carrying an identical de novo p13E-11 EcoRI fragment of paternal origin and showing great variability in the clinical expression of the disease, one being almost asymptomatic and the other severely affected. Their medical history was the same, with the exception of an anti-rabies vaccination performed at the age of 5 in the more severely affected twin. We hypothesise that the vaccination might have triggered an inflammatory immune reaction contributing to the more severe phenotype.<\/jats:p>","DOI":"10.1136\/jmg.35.9.778","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"778-783","source":"Crossref","is-referenced-by-count":36,"title":["Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression."],"prefix":"10.1136","volume":"35","author":[{"given":"R","family":"Tupler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Barbierato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Memmi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C A","family":"Sewry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"De Grandis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Maraschio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Tiepolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Ferlini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1998,9,1]]},"reference":[{"key":"ref_1","first-page":"1220","article-title":"Facioscapulohumeral dystrophy and the scapuloperoneal syndrome","author":"Munsat, T.L.","year":"1993","unstructured":"Munsat TL. Facioscapulohumeral dystrophy and the scapuloperoneal syndrome. In: Engel AG, Banker BQ, eds. Myology. New York: McGraw-Hill, 1993:1220-32."},{"key":"ref_2","article-title":"Facioscapulohumeral disease revealed by the presence of an additional less intense band","author":"Padberg, G.W.","year":"1982","unstructured":"Padberg GW. Facioscapulohumeral disease revealed by the presence of an additional less intense band. MD thesis, Leiden University, Leiden, 1982."},{"key":"ref_3","first-page":"755","article-title":"Genetic counselling in facioscapulohumeral muscular dystrophy. 7Med Genet","volume":"26","author":"Lunt, P.W.; Harper, P.S.","year":"1992","unstructured":"Lunt PW, Harper PS. 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London: Saunders, 1973:202-12."},{"key":"ref_6","first-page":"411","article-title":"Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter","volume":"51","author":"Wijmenga, C.; Sandkuijl, L.A.; Moerer, P.","year":"1992","unstructured":"Wijmenga C, Sandkuijl LA, Moerer P, et al. Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter. Am Jf Hum Genet 1992;51:411-15.","journal-title":"Am Jf Hum Genet"},{"key":"ref_7","first-page":"428","article-title":"Linkage localization of facioscapulohumeral muscular dystrophy (FHSD) in 4q35","volume":"51","author":"Mathews, K.D.; Mills, K.A.; Bosch, E.P.","year":"1992","unstructured":"Mathews KD, Mills KA, Bosch EP, et al. Linkage localization of facioscapulohumeral muscular dystrophy (FHSD) in 4q35. 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Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium.AmJHum Genet 1992;51:396-403.","journal-title":"AmJHum Genet"},{"key":"ref_12","first-page":"404","article-title":"The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD)","volume":"51","author":"Upadhyaya, M.; Lunt, P.; Sarfarazi, M.; Broadhead, W.; Farnham, J.; Harper, P.S.","year":"1992","unstructured":"Upadhyaya M, Lunt P, Sarfarazi M, Broadhead W, Farnham J, Harper PS. The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD). 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FHSD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 1993;2:2037-42.","journal-title":"Hum Mol Genet"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1007\/BF01553323","article-title":"The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease","volume":"2","author":"Winokur, S.T.; Bengtsson, U.; Feddersen, J.","year":"1994","unstructured":"Winokur ST, Bengtsson U, Feddersen J, et al. The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease. Chrom Res 1994;2: 225-34.","journal-title":"Chrom Res"},{"key":"ref_16","first-page":"155","article-title":"Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter","volume-title":"EurJHum Genet","volume":"3","author":"Deidda, G.; Cacurri, S.; Grisanti, P.; Vigneti, E.; Piazzo, N.; Felicetti, L.","year":"1995","unstructured":"Deidda G, Cacurri S, Grisanti P, Vigneti E, Piazzo N, Felicetti L. Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter. EurJHum Genet 1995;3:155-67."},{"key":"ref_17","first-page":"39","article-title":"The FSHD linked locus D4F104S1 (pl3E-l 1) on 4q35 has an homologue on 10qter","volume":"2","author":"Bakker, E.; Wijmenga, C.; Vossen, R.H.A.M.","year":"1995","unstructured":"Bakker E, Wijmenga C, Vossen RHAM, et al. The FSHD linked locus D4F104S1 (pl3E-l 1) on 4q35 has an homologue on 10qter. Muscle Nerve 1995;suppl 2:39-44.","journal-title":"Muscle Nerve"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1136\/jmg.33.5.361","article-title":"Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy","volume":"33","author":"Deidda, G.; Cacurri, S.; Piazzo, N.; Felicetti, L.","year":"1996","unstructured":"Deidda G, Cacurri S, Piazzo N, Felicetti L. Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy. 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Chromosome 4q DNA rearrangement in monozygotic twins discordant for facioscapulohumeral muscular dystrophy. Hum Mutat 1993;2:492-6."},{"key":"ref_21","first-page":"50","article-title":"Monozygotic twins with facioscapulohumeral dystrophy (FSHD): implication for genotype\/ phenotype correlation","volume":"2","author":"Griggs, R.C.; Tawil, R.; McDermott, M.; Forrester, J.; Figlewicz, D.; Weiffenbach, B.","year":"1995","unstructured":"Griggs RC, Tawil R, McDermott M, Forrester J, Figlewicz D, Weiffenbach B. Monozygotic twins with facioscapulohumeral dystrophy (FSHD): implication for genotype\/ phenotype correlation. 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Nature 1985;316:76-9.","journal-title":"Nature"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1038\/318577a0","article-title":"Forensic application of DNA \"fingerprints\"","volume":"318","author":"Gill, P.; Jeffreys, A.J.; Werrett, D.J.","year":"1985","unstructured":"Gill P, Jeffreys AJ, Werrett DJ. Forensic application of DNA \"fingerprints\". Nature 1985;318:577-9.","journal-title":"Nature"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/0960-8966(94)00072-H","article-title":"Expression of laminin subunits in congenital muscular dystrophy","volume":"5","author":"Sewry, C.A.; Philpot, J.; Mahony, D.; Wilson, L.A.; Muntoni, F.; Dubowitz, V.","year":"1995","unstructured":"Sewry CA, Philpot J, Mahony D, Wilson LA, Muntoni F, Dubowitz V. Expression of laminin subunits in congenital muscular dystrophy. 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Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD). Muscle Nerve Suppl 1995;2:S45-9.","journal-title":"Muscle Nerve Suppl"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1136\/jmg.33.1.29","article-title":"Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases","volume":"33","author":"Bakker, E.; Van der Wielen, M.J.R.; Ippel, P.F.; Padberg, G.W.; Frants, R.R.; Wijmenga, C.","year":"1996","unstructured":"Bakker E, Van der Wielen MJR, Ippel PF, Padberg GW, Frants RR, Wijmenga C. Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases. J Med Genet 1996;33:29-35.","journal-title":"J Med Genet"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1093\/hmg\/4.5.951","article-title":"Correlation between fragments size at D4Fl04S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35 facioscapulohumeral muscular dystrophy (FSHD)","volume":"4","author":"Lunt, P.; Jardine, P.E.; Koch, M.C.","year":"1995","unstructured":"Lunt P, Jardine PE, Koch MC, et al. Correlation between fragments size at D4Fl04S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35 facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 1995;4:951-8.","journal-title":"Hum Mol Genet"},{"key":"ref_34","first-page":"99","article-title":"High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families","volume":"56","author":"Zatz, M.; Marie, S.K.; Passos-Bueno, M.R.","year":"1995","unstructured":"Zatz M, Marie SK, Passos-Bueno MR, et al. High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. AmJ Hum Genet 1995;56:99-105.","journal-title":"AmJ Hum Genet"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1002\/ana.410390610","article-title":"Y Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy","volume":"39","author":"Tawil, R.; Forrester, Y.; Griggs, R.C.; Mendell, Y.; Kissel","year":"1996","unstructured":"Tawil R, Forrester Y, Griggs RC, Mendell Y, Kissel Y Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. Ann Neurol 1996;39:744-8.","journal-title":"Ann Neurol"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1002\/mus.880181312","article-title":"Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analysis","volume":"2","author":"Arahata, K.; Ishihara, T.; Fukunaga, H.","year":"1995","unstructured":"Arahata K, Ishihara T, Fukunaga H, et al. Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analysis. 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