Clinical characteristics of congenital myotonic dystrophy diagnosed by molecular genetic method
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Nam, Sook Hyun
(Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University school of Medicine)
Son, Young Bae (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University school of Medicine) Lee, Bo Lyun (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University school of Medicine) Lee, Jeehun (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University school of Medicine) Ki, Chang-seok (Laboratory medicine, Samsung Medical Center, Sungkyunkwan University school of Medicine) Lee, Munhyang (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University school of Medicine) |
1 | Machuca-Tzili L, Brook D, Hilton-Jones D. Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve 2005;32:1-18 DOI ScienceOn |
2 | Fu YH, Pizzuti A, Fenwick RG, Jr., King J, Rajnarayan S, Dunne PW, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992;255:1256-8 DOI |
3 | Roig M, Balliu PR, Navarro C, Brugera R, Losada M. Presentation, clinical course, and outcome of the congenital form of myotonic dystrophy. Pediatr Neurol 1994;11:208-13 DOI ScienceOn |
4 | Dubowitz V. Genetic counselling. Neuromuscul Disord 1992; 2:85-6 DOI ScienceOn |
5 | Rudnik-Schoneborn S, Zerres K. Outcome in pregnancies complicated by myotonic dystrophy: a study of 31 patients and review of the literature. Eur J Obstet Gynecol Reprod Biol 2004;114:44-53 DOI ScienceOn |
6 | Imbert G, Kretz C, Johnson K, Mandel JL. Origin of the expansion mutation in myotonic dystrophy. Nat Genet 1993; 4:72-6 DOI ScienceOn |
7 | Groenen P, Wieringa B. Expanding complexity in myotonic dystrophy. Bioessays 1998;20:901-12 DOI ScienceOn |
8 | Zerylnick C, Torroni A, Sherman SL, Warren ST. Normal variation at the myotonic dystrophy locus in global human populations. Am J Hum Genet 1995;56:123-30 |
9 | Pearson CE, Nichol Edamura K, Cleary JD. Repeat instability: mechanisms of dynamic mutations. Nat Rev Genet 2005;6:729-42 DOI ScienceOn |
10 | Harper PS. Myotonic Dystrophy. 2nd ed. London : W.B. Saunders, 1989:13-78 |
11 | Jung SH, Bang MS. Belated diagnosis of congenital myotonic dystrophy in a boy with cerebral palsy. Am J Phys Med Rehabil 2007;86:161-5 DOI ScienceOn |
12 | Harley HG, Rundle SA, MacMillan JC, Myring J, Brook JD, Crow S, et al. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet 1993;52:1164-74 |
13 | Zaki M, Boyd PA, Impey L, Roberts A, Chamberlain P. Congenital myotonic dystrophy: prenatal ultrasound findings and pregnancy outcome. Ultrasound Obstet Gynecol 2007; 29:284-8 DOI ScienceOn |
14 | Dubowitz V. Muscle Disorders in Childhood. 2nd ed. London: WB Saunders Co, 1995:289 |
15 | Lueck JD, Mankodi A, Swanson MS, Thornton CA, Dirksen RT. Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy. J Gen Physiol 2007;129:79-94 DOI ScienceOn |
16 | Martorell L, Cobo AM, Baiget M, Naudo M, Poza JJ, Parra J. Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1 families. Prenat Diagn 2007;27:68-72 DOI ScienceOn |
17 | Lavedan C, Hofmann-Radvanyi H, Shelbourne P, Rabes JP, Duros C, Savoy D, et al. Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am J Hum Genet 1993;52:875-83 |
18 | Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, et al. 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 1992;69:385 |
19 | Cho DH, Tapscott SJ. Myotonic dystrophy: Emerging mechanisms for DM1 and DM2. Biochim Biophys Acta 2006; 1772:195-204 |
20 | Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science 1992;255:1253-5 DOI |
21 | Furling D, Lam le T, Agbulut O, Butler-Browne GS, Morris GE. Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy. Am J Pathol 2003;162:1001-9 DOI ScienceOn |
22 | New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). The International Myotonic Dystrophy Consortium (IDMC). Neurology 2000;54:1218-21 DOI ScienceOn |
23 | Schara U, Schoser BG. Myotonic dystrophies type 1 and 2:a summary on current aspects. Semin Pediatr Neurol 2006; 13:71-9 DOI ScienceOn |
24 | Kim SH, Kim EY, Park SK, Choi SJ, Lim SC. A Case of Congenital Myotonic Dystrophy Diagnosed by Molecular Genetics. J Korean Soc Neonatol 2006;13:194-8 |
25 | Kim HK, Kim JH, Lee YA, Ko TS, Kim KS, Yoo HW, et al. A Case of Congenital Myotonic Dystrophy Diagnosed by Molecular Genetics. J Korean Child Neurol Soc 1998;5:356- 60 |
26 | Arsenault ME, Prevost C, Lescault A, Laberge C, Puymirat J, Mathieu J. Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. Neurology 2006;66:1248-50 DOI ScienceOn |
27 | Day JW, Ranum LP. RNA pathogenesis of the myotonic dystrophies. Neuromuscul Disord 2005;15:5-16 DOI ScienceOn |
28 | Geifman-Holtzman O, Fay K. Prenatal diagnosis of congenital myotonic dystrophy and counseling of the pregnant mother: case report and literature review. Am J Med Genet 1998;78:250-3 DOI ScienceOn |
29 | Harper PS, DG M. Myotonic dystrophy, in Engel AG, Franzini- Armstrong C (eds): Myology (ed3). In. New York: NY, McGraw Hill Professional, 2004:1039-76 |
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