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Volumn 78, Issue 3, 1998, Pages 250-253

Prenatal diagnosis of congenital myotonic dystrophy and counseling of the pregnant mother: Case report and literature review

Author keywords

Congenital myotonic dystrophy; CVS, amniocentesis; DNA analysis; Prenatal diagnosis

Indexed keywords

AMNIOCENTESIS; AMNION CELL; ARTICLE; CHORION VILLUS; DATA ANALYSIS; DNA DETERMINATION; GENE EXPRESSION; GENE MUTATION; HUMAN; MATERNAL CARE; MYOTONIC DYSTROPHY; PATIENT COUNSELING; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 0031750478     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980707)78:3<250::AID-AJMG8>3.0.CO;2-T     Document Type: Article
Times cited : (17)

References (27)
  • 1
    • 0027257735 scopus 로고
    • Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
    • Anvret M, Ahlberg G, Grandell U, Hedberg B, Johnson K, Edstrom L (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, G.2    Grandell, U.3    Hedberg, B.4    Johnson, K.5    Edstrom, L.6
  • 2
    • 0026802316 scopus 로고
    • Anticipation in myotonic dystrophy: Complex relationships between clinical findings and structure of the GCT repeat
    • Ashizawa T, Dubel JR, Dunne PW, Dunne CJ, Pizzuti A, Caskey CT, et al. (1992): Anticipation in myotonic dystrophy: Complex relationships between clinical findings and structure of the GCT repeat. Neurology 42:1877-1883.
    • (1992) Neurology , vol.42 , pp. 1877-1883
    • Ashizawa, T.1    Dubel, J.R.2    Dunne, P.W.3    Dunne, C.J.4    Pizzuti, A.5    Caskey, C.T.6
  • 3
    • 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
  • 4
    • 0028013626 scopus 로고
    • Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy
    • Ashizawa T, Anvert M, Baiget M, Barcelo JM, Brunner H, Cobo AM, 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    Anvert, M.2    Baiget, M.3    Barcelo, J.M.4    Brunner, H.5    Cobo, A.M.6
  • 5
    • 0026567370 scopus 로고
    • Cloning of the essential myotonic dystrophy region and mapping of the putative defect
    • Aslanidis C, Jansen G, Amemiya C, Shutler G, Mahadevan M, Tsilfidis C, et al. (1992): Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 255:548-551.
    • (1992) Nature , vol.255 , pp. 548-551
    • Aslanidis, C.1    Jansen, G.2    Amemiya, C.3    Shutler, G.4    Mahadevan, M.5    Tsilfidis, C.6
  • 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, Buckler AJ, Church D, Aburatani H, 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    Buckler, A.J.4    Church, D.5    Aburatani, H.6
  • 8
    • 0028962192 scopus 로고
    • Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy
    • Cobo AM, Poza JJ, Martorell L, de Munain AL, Emparanza JI, Baiget M. (1995): Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy. J Med Genet 32:105-108.
    • (1995) J Med Genet , vol.32 , pp. 105-108
    • Cobo, A.M.1    Poza, J.J.2    Martorell, L.3    De Munain, A.L.4    Emparanza, J.I.5    Baiget, M.6
  • 9
    • 0026598119 scopus 로고
    • An unstable triplet repeat in a gene related to myotonic muscular dystrophy
    • Fu YH, Pizzuti A, Fenwick RG Jr, King J, Rajnarayan S, Dunne PW, 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 Jr., R.G.3    King, J.4    Rajnarayan, S.5    Dunne, P.W.6
  • 11
    • 0010992003 scopus 로고
    • Myotonic dystrophy and related disorders
    • Emery AE, Rimoin DL (eds): New York: Churchill Livingstone
    • Harper PS (1990): Myotonic dystrophy and related disorders. In Emery AE, Rimoin DL (eds): Principles and Practice of Medical Genetics, 2nd ed. New York: Churchill Livingstone, pp 579-597.
    • (1990) Principles and Practice of Medical Genetics, 2nd Ed. , pp. 579-597
    • Harper, P.S.1
  • 14
    • 0028355538 scopus 로고
    • Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm
    • Jansen G, Willems P, Coerwinkel M, Nillesen W, Smeets H, Vits L, Howeler C, Brunner H, Wieringa B (1994): Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)n repeat 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    Nillesen, W.4    Smeets, H.5    Vits, L.6    Howeler, C.7    Brunner, H.8    Wieringa, B.9
  • 16
    • 0028335650 scopus 로고
    • Prenatal diagnosis for the unstable CTG repeat sequence in myotonic dystrophy: A retrospective study in a French family
    • Lucotte G, Berriche S, David F, Mariotti M, Turpin JC (1994): Prenatal diagnosis for the unstable CTG repeat sequence in myotonic dystrophy: A retrospective study in a French family. Genet Counseling, 5:171-174.
    • (1994) Genet Counseling , vol.5 , pp. 171-174
    • Lucotte, G.1    Berriche, S.2    David, F.3    Mariotti, M.4    Turpin, J.C.5
  • 17
    • 0026603841 scopus 로고
    • Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
    • Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, 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    Shutler, G.4    Amemiya, C.5    Jansen, G.6
  • 18
    • 0029085338 scopus 로고
    • Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period
    • Martorell L, Martinez MM, Carey N, Johnson K, Baiget M (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, M.M.2    Carey, N.3    Johnson, K.4    Baiget, M.5
  • 20
    • 0029869440 scopus 로고    scopus 로고
    • Prenatal diagnosis of congenital myotonic dystrophy in two Japanese families: Direct mutation analysis by a non-radioisotope PCR method and haplotype analysis with flanking DNA markers
    • Nanba E, Ito T, Kadowaki K, Makio A, Nakagawa M, Yamamoto T, Yuasa I, Takeshita K. (1996): Prenatal diagnosis of congenital myotonic dystrophy in two Japanese families: Direct mutation analysis by a non-radioisotope PCR method and haplotype analysis with flanking DNA markers. Brain Dev 18:122-126.
    • (1996) Brain Dev , vol.18 , pp. 122-126
    • Nanba, E.1    Ito, T.2    Kadowaki, K.3    Makio, A.4    Nakagawa, M.5    Yamamoto, T.6    Yuasa, I.7    Takeshita, K.8
  • 23
    • 0027408596 scopus 로고
    • Relationship between parental trinucleotide CTG repeat length and severity of myotonic dystrophy in offspring
    • Redman JB, Fenwick RG, Fu Y-H, Pizzuti A, Caskey CT (1993): Relationship between parental trinucleotide CTG repeat length and severity of myotonic dystrophy in offspring. JAMA 269:1960-1965.
    • (1993) JAMA , vol.269 , pp. 1960-1965
    • Redman, J.B.1    Fenwick, R.G.2    Fu, Y.-H.3    Pizzuti, A.4    Caskey, C.T.5
  • 25
    • 0028918009 scopus 로고
    • Minimal somatic instability of CTG repeat in congenital myotonic dystrophy
    • Tachi N, Ohya K, Chiba S, Sato T, Kikuchi K, (1995): Minimal somatic instability of CTG repeat in congenital myotonic dystrophy. Pediatr Neurol 12:81-83.
    • (1995) Pediatr Neurol , vol.12 , pp. 81-83
    • Tachi, N.1    Ohya, K.2    Chiba, S.3    Sato, T.4    Kikuchi, K.5
  • 26
    • 0026879229 scopus 로고
    • Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy
    • Tsilfidis C, MacKenzie AE, Mettler G, Barcelo J, Korneluk RG (1992): Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nature Genet 1:192-195.
    • (1992) Nature Genet , vol.1 , pp. 192-195
    • Tsilfidis, C.1    MacKenzie, A.E.2    Mettler, G.3    Barcelo, J.4    Korneluk, R.G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.