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Volumn 27, Issue 1, 2007, Pages 68-72

Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: Implications for reproductive counselling in DM1 families

Author keywords

Congenital form; Expansion; Myotonic dystrophy; Prenatal diagnosis

Indexed keywords

AMNION FLUID; ARTICLE; CHORION VILLUS; DISEASE CLASSIFICATION; FEMALE; FETUS; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDICAL PRACTICE; MYOTONIC DYSTROPHY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 33846450623     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1627     Document Type: Article
Times cited : (32)

References (41)
  • 1
    • 0027257735 scopus 로고
    • Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
    • Anvret M, Ahlberg O, Grandell U, et al. 1993. Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum Mol Genet 2: 1397-1400.
    • (1993) Hum Mol Genet , vol.2 , pp. 1397-1400
    • Anvret, M.1    Ahlberg, O.2    Grandell, U.3
  • 2
    • 0027716510 scopus 로고
    • Somatic instability of CTG repeat in myotonic dystrophy
    • Ashizawa T, Dubel JR, Harati Y. 1993. Somatic instability of CTG repeat in myotonic dystrophy. Neurology 43: 2674-2678.
    • (1993) Neurology , vol.43 , pp. 2674-2678
    • Ashizawa, T.1    Dubel, J.R.2    Harati, Y.3
  • 3
    • 0028013626 scopus 로고
    • Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy
    • Ashizawa T, Anvret M, Baiget M, et al. 1994. Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet 54: 414-423.
    • (1994) Am J Hum Genet , vol.54 , pp. 414-423
    • Ashizawa, T.1    Anvret, M.2    Baiget, M.3
  • 4
    • 0026567370 scopus 로고
    • Cloning of the essential myotonic dystrophy region and mapping of the putative defect
    • Aslanidis C, Jansen G, Amemiya C, et al. 1992. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 355: 548-550.
    • (1992) Nature , vol.355 , pp. 548-550
    • Aslanidis, C.1    Jansen, G.2    Amemiya, C.3
  • 5
    • 0027256028 scopus 로고
    • Intergenerational stability of the myotonic dystrophy protomutation
    • Barceló JM, Mahadevan MS, Tsilfidis C, et al. 1993. Intergenerational stability of the myotonic dystrophy protomutation. Hum Mol Genet 2: 705-709.
    • (1993) Hum Mol Genet , vol.2 , pp. 705-709
    • Barceló, J.M.1    Mahadevan, M.S.2    Tsilfidis, C.3
  • 6
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
    • Brook JD, McCurrach ME, Harley HG, et al. 1992. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68: 799-808.
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3
  • 7
    • 0027420436 scopus 로고
    • Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM)
    • Brunner HG, Bruggenwirth HT, Nillesen W, et al. 1993. Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM). Am J Hum Genet 53: 1016-1023.
    • (1993) Am J Hum Genet , vol.53 , pp. 1016-1023
    • Brunner, H.G.1    Bruggenwirth, H.T.2    Nillesen, W.3
  • 8
    • 0026584805 scopus 로고
    • Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
    • Buxton J, Shelbourne P, Davies J, et al. 1992. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355: 547-548.
    • (1992) Nature , vol.355 , pp. 547-548
    • Buxton, J.1    Shelbourne, P.2    Davies, J.3
  • 9
    • 0028321831 scopus 로고
    • Meiotic drive at the myotonic dystrophy locus?
    • Carey N, Johnson K, Nokelainen P, et al. 1994. Meiotic drive at the myotonic dystrophy locus? Nat Genet 6: 117-118.
    • (1994) Nat Genet , vol.6 , pp. 117-118
    • Carey, N.1    Johnson, K.2    Nokelainen, P.3
  • 12
    • 0026598119 scopus 로고
    • An unstable triplet repeat in a gene related to myotonic muscular dystrophy
    • Fu YH, Pizzuti A, Fenwick RG, et al. 1992. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255: 1256-1258.
    • (1992) Science , vol.255 , pp. 1256-1258
    • Fu, Y.H.1    Pizzuti, A.2    Fenwick, R.G.3
  • 13
  • 14
    • 0026601924 scopus 로고
    • Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
    • Harley HG, Brook JD, Rundle SA, et al. 1992. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 355: 545-546.
    • (1992) Nature , vol.355 , pp. 545-546
    • Harley, H.G.1    Brook, J.D.2    Rundle, S.A.3
  • 15
    • 0027485748 scopus 로고
    • Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy
    • Harley HG, Rundle SA, MacMillan JC, et al. 1993. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet 52: 1164-1174.
    • (1993) Am J Hum Genet , vol.52 , pp. 1164-1174
    • Harley, H.G.1    Rundle, S.A.2    MacMillan, J.C.3
  • 17
    • 0026885037 scopus 로고
    • Anticipation in myotonic dystrophy: New light on an old problem
    • Harper PS, Harley HG, Reardon W, Shaw DJ. 1992. Anticipation in myotonic dystrophy: new light on an old problem. Am J Hum Genet 51: 10-16.
    • (1992) Am J Hum Genet , vol.51 , pp. 10-16
    • Harper, P.S.1    Harley, H.G.2    Reardon, W.3    Shaw, D.J.4
  • 18
    • 0024390849 scopus 로고
    • Anticipation in myotonic dystrophy: Fact or fiction?
    • Höweler CJ, Busch HFM, Geraedts JPM, et al. 1989. Anticipation in myotonic dystrophy: fact or fiction? Brain 112: 779-797.
    • (1989) Brain , vol.112 , pp. 779-797
    • Höweler, C.J.1    Busch, H.F.M.2    Geraedts, J.P.M.3
  • 19
    • 0028355538 scopus 로고
    • Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)n variation and selection against extreme expansion in sperm
    • Jansen G, Willems P, Coerwinkel M, et al. 1994. Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n variation and selection against extreme expansion in sperm. Am J Hum Genet 54: 575-585.
    • (1994) Am J Hum Genet , vol.54 , pp. 575-585
    • Jansen, G.1    Willems, P.2    Coerwinkel, M.3
  • 20
    • 0025794158 scopus 로고
    • Genetic risks for children of women with myotonic dystrophy
    • Koch MC, Grimm T, Harley HG, Harper PS. 1991. Genetic risks for children of women with myotonic dystrophy. Am J Hum Genet 48: 1084-1091.
    • (1991) Am J Hum Genet , vol.48 , pp. 1084-1091
    • Koch, M.C.1    Grimm, T.2    Harley, H.G.3    Harper, P.S.4
  • 21
    • 0027366978 scopus 로고
    • Myotonic dystrophy: Size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism
    • Lavedan C, Hofmann-Radvanyi H, Shelbourne P, et al. 1993. Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am J Hum Genet 52: 875-883.
    • (1993) Am J Hum Genet , vol.52 , pp. 875-883
    • Lavedan, C.1    Hofmann-Radvanyi, H.2    Shelbourne, P.3
  • 22
    • 0029798777 scopus 로고    scopus 로고
    • Analysis of meiotic segregation, using single sperm typing: Meiotic drive at the myotonic dystrophy locus
    • Leeflang EP, McPeek MS, Arnheim N. 1996. Analysis of meiotic segregation, using single sperm typing: meiotic drive at the myotonic dystrophy locus. Am J Hum Genet 59: 896-904.
    • (1996) Am J Hum Genet , vol.59 , pp. 896-904
    • Leeflang, E.P.1    McPeek, M.S.2    Arnheim, N.3
  • 23
    • 0027304415 scopus 로고
    • Prevalence of myotonic dystrophy in Guipuzcoa (Basque Country, Spain)
    • Lopez de Munain A, Blanco A, Emparanza JI, et al. 1993. Prevalence of myotonic dystrophy in Guipuzcoa (Basque Country, Spain). Neurology 43: 1573-1576.
    • (1993) Neurology , vol.43 , pp. 1573-1576
    • Lopez de Munain, A.1    Blanco, A.2    Emparanza, J.I.3
  • 24
    • 0031759341 scopus 로고    scopus 로고
    • Segregation distortion in myotonic dystrophy
    • Magee AC, Hughes AE. 1998. Segregation distortion in myotonic dystrophy. J Med Genet 35: 1045-1046.
    • (1998) J Med Genet , vol.35 , pp. 1045-1046
    • Magee, A.C.1    Hughes, A.E.2
  • 25
    • 0026603841 scopus 로고
    • Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
    • Mahadevan M, Tsilfidis C, Sabourin L, et al. 1992. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255: 1253-1255.
    • (1992) Science , vol.255 , pp. 1253-1255
    • Mahadevan, M.1    Tsilfidis, C.2    Sabourin, L.3
  • 26
    • 0034045198 scopus 로고    scopus 로고
    • Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1
    • Martorell L, Monckton DG, Gamez J, Baiget M. 2000. Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1. Eur J Hum Genet 8: 423-430.
    • (2000) Eur J Hum Genet , vol.8 , pp. 423-430
    • Martorell, L.1    Monckton, D.G.2    Gamez, J.3    Baiget, M.4
  • 27
    • 0029085338 scopus 로고
    • Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period
    • Martorell L, Martinez JM, Carey N, et al. 1995. Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period. J Med Genet 32: 593-596.
    • (1995) J Med Genet , vol.32 , pp. 593-596
    • Martorell, L.1    Martinez, J.M.2    Carey, N.3
  • 28
    • 0031984489 scopus 로고    scopus 로고
    • Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients
    • Martorell L, Monckton DG, Gamez J, et al. 1998. Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients. Hum Mol Genet 7: 307-312.
    • (1998) Hum Mol Genet , vol.7 , pp. 307-312
    • Martorell, L.1    Monckton, D.G.2    Gamez, J.3
  • 29
    • 0035852858 scopus 로고    scopus 로고
    • Frequency and stability of the myotonic dystrophy type 1 premutation
    • Martorell L, Monckton DG, Sanchez A, et al. 2001. Frequency and stability of the myotonic dystrophy type 1 premutation. Neurology 56: 328-335.
    • (2001) Neurology , vol.56 , pp. 328-335
    • Martorell, L.1    Monckton, D.G.2    Sanchez, A.3
  • 30
    • 0842347339 scopus 로고    scopus 로고
    • Germline mutational dynamics in myotonic dystrophy type 1 males. Allele length and age effects
    • Martorell L, Gamez J, Cayuela Ml, et al. 2004. Germline mutational dynamics in myotonic dystrophy type 1 males. Allele length and age effects. Neurology 62: 269-274.
    • (2004) Neurology , vol.62 , pp. 269-274
    • Martorell, L.1    Gamez, J.2    Cayuela, M.3
  • 31
    • 0029036529 scopus 로고
    • Postzygotic instability of the myotonic dystrophy p[AGC] in repeat supported by larger expansions in muscle and reduced amplifications in sperm
    • Massari A, Gennarelli M, Menegazzo E, et al. 1995. Postzygotic instability of the myotonic dystrophy p[AGC] in repeat supported by larger expansions in muscle and reduced amplifications in sperm. J Neurol 242: 379-383.
    • (1995) J Neurol , vol.242 , pp. 379-383
    • Massari, A.1    Gennarelli, M.2    Menegazzo, E.3
  • 32
    • 0026456685 scopus 로고
    • Expansion of the 3′ myotonin-protein kinase gene related to myotonic dystrophy in Italian and Spanish patients
    • Melchionda S, Cobo AM, Gennarelli M, et al. 1992. Expansion of the 3′ myotonin-protein kinase gene related to myotonic dystrophy in Italian and Spanish patients. J Med Genet 29: 789-790.
    • (1992) J Med Genet , vol.29 , pp. 789-790
    • Melchionda, S.1    Cobo, A.M.2    Gennarelli, M.3
  • 33
    • 0028873248 scopus 로고
    • Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses
    • Monckton DG, Wong L-JC, Ashizawa T, Caskey CT. 1995. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum Mol Genet 4: 1-8.
    • (1995) Hum Mol Genet , vol.4 , pp. 1-8
    • Monckton, D.G.1    Wong, L.-J.C.2    Ashizawa, T.3    Caskey, C.T.4
  • 34
    • 1942475963 scopus 로고    scopus 로고
    • Outcome in pregnancies complicated by myotonic dystrophy: A study of 31 patients and review of the literature
    • Rudnik-Shöneborn S, Zerres K. 2004. Outcome in pregnancies complicated by myotonic dystrophy: a study of 31 patients and review of the literature. Eur J Obstet Gynecol Reprod Biol 114: 44-53.
    • (2004) Eur J Obstet Gynecol Reprod Biol , vol.114 , pp. 44-53
    • Rudnik-Shöneborn, S.1    Zerres, K.2
  • 35
    • 0008565607 scopus 로고
    • Evidence for meiotic drive at the myotonic dystrophy locus
    • Shaw AM, Barnetson RA, Phillips MF, et al. 1995. Evidence for meiotic drive at the myotonic dystrophy locus. J Med Genet 32: 145.
    • (1995) J Med Genet , vol.32 , pp. 145
    • Shaw, A.M.1    Barnetson, R.A.2    Phillips, M.F.3
  • 36
    • 0027957470 scopus 로고
    • Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
    • Thornton CA, Johnson KJ, Moxley RT. 1994. Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann Neurol 35: 104-107.
    • (1994) Ann Neurol , vol.35 , pp. 104-107
    • Thornton, C.A.1    Johnson, K.J.2    Moxley, R.T.3
  • 37
    • 0026879229 scopus 로고
    • Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy
    • Tsilfidis C, MacKenzie AE, Mettler G, et al. 1992. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nat Genet 1: 192-195.
    • (1992) Nat Genet , vol.1 , pp. 192-195
    • Tsilfidis, C.1    MacKenzie, A.E.2    Mettler, G.3
  • 38
    • 0028890669 scopus 로고
    • Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent
    • Wong L-JC, Ashizawa T, Monckton DG, et al. 1995. Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am J Hum Genet 56: 114-122.
    • (1995) Am J Hum Genet , vol.56 , pp. 114-122
    • Wong, L.-J.C.1    Ashizawa, T.2    Monckton, D.G.3
  • 39
    • 0028331527 scopus 로고
    • Detection of a premutation in Japanese myotonic dystrophy
    • Yamagata H, Miki T, Sakoda S-I, et al. 1994. Detection of a premutation in Japanese myotonic dystrophy. Hum Mol Genet 3: 819-820.
    • (1994) Hum Mol Genet , vol.3 , pp. 819-820
    • Yamagata, H.1    Miki, T.2    Sakoda, S.-I.3
  • 40
    • 0030882887 scopus 로고    scopus 로고
    • Segregation distortion of the CTG repeats at the myotonic dystrophy (DM) locus: New data from Brazilian DM families
    • Zatz M, Cerqueira A, Vainzof M, Passos-Bueno MR. 1997. Segregation distortion of the CTG repeats at the myotonic dystrophy (DM) locus: New data from Brazilian DM families. J Med Genet 34: 790-791.
    • (1997) J Med Genet , vol.34 , pp. 790-791
    • Zatz, M.1    Cerqueira, A.2    Vainzof, M.3    Passos-Bueno, M.R.4
  • 41
    • 3142677159 scopus 로고    scopus 로고
    • Myotonic dystrophy- No evidence for preferential transmission of the mutated allele: A prenatal analysis
    • Zunz E, Abeliovich D, Halpern G, Magal N, Shohat M. 2004. Myotonic dystrophy- No evidence for preferential transmission of the mutated allele: a prenatal analysis. Am J Med Genet 127: 50-53.
    • (2004) Am J Med Genet , vol.127 , pp. 50-53
    • Zunz, E.1    Abeliovich, D.2    Halpern, G.3    Magal, N.4    Shohat, M.5


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