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Volumn 113, Issue 4 I, 2004, Pages 811-816

Congenital Myotonic Dystrophy: Assisted Ventilation Duration and Outcome

Author keywords

Congenital myotonic dystrophy; Development; Mortality; Prognosis; Ventilation

Indexed keywords

ARTICLE; ASSISTED VENTILATION; CANADA; CLINICAL ARTICLE; DAILY LIFE ACTIVITY; DEVELOPMENTAL BIOLOGY; DRUG WITHDRAWAL; FEMALE; FOLLOW UP; HUMAN; LANGUAGE; MALE; MORBIDITY; MORTALITY; MOTOR PERFORMANCE; MYOTONIC DYSTROPHY; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCORING SYSTEM; THOMSEN DISEASE; TREATMENT OUTCOME;

EID: 1842481995     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: 10.1542/peds.113.4.811     Document Type: Article
Times cited : (68)

References (25)
  • 2
    • 0035800434 scopus 로고    scopus 로고
    • Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
    • Liquori CL, Ricker K, Moseley ML, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science. 2001;293:864-867
    • (2001) Science , vol.293 , pp. 864-867
    • Liquori, C.L.1    Ricker, K.2    Moseley, M.L.3
  • 3
    • 0035800470 scopus 로고    scopus 로고
    • Reconstructing myotonic dystrophy
    • Tapscott SJ, Thornton CA. Reconstructing myotonic dystrophy. Science. 2001;293:816-817
    • (2001) Science , vol.293 , pp. 816-817
    • Tapscott, S.J.1    Thornton, C.A.2
  • 4
    • 0033073594 scopus 로고    scopus 로고
    • Human genetics '99: Trinucleotide repeats. Myotonic dystrophy: The role of RNA CUG repeats
    • Timchenko LT. Human genetics '99: trinucleotide repeats. Myotonic dystrophy: the role of RNA CUG repeats. Am J Hum Genet. 1999;64:360-364
    • (1999) Am J Hum Genet , vol.64 , pp. 360-364
    • Timchenko, L.T.1
  • 5
    • 0022460431 scopus 로고
    • Congenital myotonic dystrophy. Incidence, clinical aspects and early prognosis
    • Wesstram G, Bensch J, Schollin J. Congenital myotonic dystrophy. Incidence, clinical aspects and early prognosis. Acta Pediatr Scand. 1986;75:849-854
    • (1986) Acta Pediatr Scand , vol.75 , pp. 849-854
    • Wesstram, G.1    Bensch, J.2    Schollin, J.3
  • 6
    • 0344154134 scopus 로고    scopus 로고
    • Neuromuscular disorders: Muscle involvement and restricted disorders
    • Philadelphia, PA: WB Saunders Company
    • Volpe JJ. Neuromuscular disorders: muscle involvement and restricted disorders. In: Neurology of the Newborn. 4th ed. Philadelphia, PA: WB Saunders Company; 2001:634-671
    • (2001) Neurology of the Newborn. 4th Ed. , pp. 634-671
    • Volpe, J.J.1
  • 7
    • 0027480184 scopus 로고
    • Congenital myotonic dystrophy; a report on thirteen cases and a review of the literature
    • Hageman ATM, Gabreels FJM, Liem KD, Renkawek K, Boon JM. Congenital myotonic dystrophy; a report on thirteen cases and a review of the literature. J Neurol Sci. 1993;115:95-101
    • (1993) J Neurol Sci , vol.115 , pp. 95-101
    • Hageman, A.T.M.1    Gabreels, F.J.M.2    Liem, K.D.3    Renkawek, K.4    Boon, J.M.5
  • 8
    • 0027498921 scopus 로고
    • The natural history of congenital myotonic dystrophy: Mortality and long term clinical aspects
    • Reardon W, Newcombe R, Fenton I, Silbert J, Harper PS. The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects. Arch Dis Child. 1993;68:177-181
    • (1993) Arch Dis Child , vol.68 , pp. 177-181
    • Reardon, W.1    Newcombe, R.2    Fenton, I.3    Silbert, J.4    Harper, P.S.5
  • 9
    • 0027940625 scopus 로고
    • Presentation, clinical course, and outcome of the congenital form of myotonic dystrophy
    • Roig M, Balliu P, Navarro C, Brugera R, Lasada M. Presentation, clinical course, and outcome of the congenital form of myotonic dystrophy. Pediatr Neurol. 1994;11:208-213
    • (1994) Pediatr Neurol , vol.11 , pp. 208-213
    • Roig, M.1    Balliu, P.2    Navarro, C.3    Brugera, R.4    Lasada, M.5
  • 10
    • 0026457624 scopus 로고
    • The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy
    • Hunter A, Tsilfidis C, Mettler G, et al. The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy. J Med Genet. 1992;29:774-779
    • (1992) J Med Genet , vol.29 , pp. 774-779
    • Hunter, A.1    Tsilfidis, C.2    Mettler, G.3
  • 11
    • 0001125916 scopus 로고    scopus 로고
    • New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)
    • The International Myotonic Dystrophy Consortium. New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). Neurology. 2000;54:1218-1221
    • (2000) Neurology , vol.54 , pp. 1218-1221
  • 12
    • 0031758764 scopus 로고    scopus 로고
    • Knowledge, views and experience of 25 women with myotonic dystrophy
    • Faulkner CL, Kingston HM. Knowledge, views and experience of 25 women with myotonic dystrophy. J Med Genet. 1998;35:1020-1025
    • (1998) J Med Genet , vol.35 , pp. 1020-1025
    • Faulkner, C.L.1    Kingston, H.M.2
  • 13
    • 0024500162 scopus 로고
    • Congenital myotonic dystrophy: Respiratory function at birth determines survival
    • Rutherford MA, Heckmatt JZ, Dubowitz V. Congenital myotonic dystrophy: respiratory function at birth determines survival. Arch Dis Child. 1989;64:191-195
    • (1989) Arch Dis Child , vol.64 , pp. 191-195
    • Rutherford, M.A.1    Heckmatt, J.Z.2    Dubowitz, V.3
  • 14
    • 0026664834 scopus 로고
    • Clinical features for prediction of survival in neonatal muscle disease
    • Connolly MB, Roland EH, Hill A. Clinical features for prediction of survival in neonatal muscle disease. Pediatr Neurol. 1992;8:285-288
    • (1992) Pediatr Neurol , vol.8 , pp. 285-288
    • Connolly, M.B.1    Roland, E.H.2    Hill, A.3
  • 15
    • 25744452834 scopus 로고
    • Duration of ventilation in myotonic dystrophy predicts poor outcome
    • Wong PKH, Kirpalani H, Murphy G, Becker L. Duration of ventilation in myotonic dystrophy predicts poor outcome. Neurology. 1976;26:498A
    • (1976) Neurology , vol.26
    • Wong, P.K.H.1    Kirpalani, H.2    Murphy, G.3    Becker, L.4
  • 16
    • 0032978109 scopus 로고    scopus 로고
    • Survival of a 30-week baby with congenital myotonic dystrophy initially ventilated for 55 days
    • Lee S, Chan KY, Chow CB. Survival of a 30-week baby with congenital myotonic dystrophy initially ventilated for 55 days. J Paediatr Child Health. 1999;35:313-314
    • (1999) J Paediatr Child Health , vol.35 , pp. 313-314
    • Lee, S.1    Chan, K.Y.2    Chow, C.B.3
  • 17
    • 0031895218 scopus 로고    scopus 로고
    • Congenital myotonic dystrophy requiring prolonged endotracheal and noninvasive assisted ventilation: Not a uniformly fatal condition
    • Keller C, Reynolds A, Lee B, Garcia-Prats J. Congenital myotonic dystrophy requiring prolonged endotracheal and noninvasive assisted ventilation: not a uniformly fatal condition. Pediatrics. 1998;101:704-706
    • (1998) Pediatrics , vol.101 , pp. 704-706
    • Keller, C.1    Reynolds, A.2    Lee, B.3    Garcia-Prats, J.4
  • 18
    • 0346117302 scopus 로고
    • Influences of the brain on normal and abnormal muscle development
    • Hill A, Volpe JJ, eds. New York, NY: Raven Press
    • Jacob P, Sarnat H. Influences of the brain on normal and abnormal muscle development. In: Hill A, Volpe JJ, eds. Fetal Neurology. New York, NY: Raven Press; 1989:269-292
    • (1989) Fetal Neurology , pp. 269-292
    • Jacob, P.1    Sarnat, H.2
  • 19
    • 0034782974 scopus 로고    scopus 로고
    • Defective satellite cells in congenital myotonic dystrophy
    • Furling D, Coiffier L, Mouly V, et al. Defective satellite cells in congenital myotonic dystrophy. Hum Mol Genet. 2001;10:2079-2087
    • (2001) Hum Mol Genet , vol.10 , pp. 2079-2087
    • Furling, D.1    Coiffier, L.2    Mouly, V.3
  • 20
    • 0026784323 scopus 로고
    • Neuroradiological findings in children with congenital myotonic dystrophy
    • Tanabe Y, Iai M, Tamai K, Fujimoto N, Sugita K. Neuroradiological findings in children with congenital myotonic dystrophy. Acta Pediatr. 1992;81:613-617
    • (1992) Acta Pediatr , vol.81 , pp. 613-617
    • Tanabe, Y.1    Iai, M.2    Tamai, K.3    Fujimoto, N.4    Sugita, K.5
  • 21
    • 0027408596 scopus 로고
    • Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring
    • Redman JB, Fenwick RG, Fu Y, Pizzuti A, Caskey T. Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. JAMA. 1993;269:1960-1965
    • (1993) JAMA , vol.269 , pp. 1960-1965
    • Redman, J.B.1    Fenwick, R.G.2    Fu, Y.3    Pizzuti, A.4    Caskey, T.5
  • 22
    • 0030957518 scopus 로고    scopus 로고
    • Myotonic dystrophy the role of large triplet repeat length in the development of mental retardation
    • Spranger M, Spranger S, Tischendorf M, Meinck H, Cremer M. Myotonic dystrophy the role of large triplet repeat length in the development of mental retardation. Arch Neurol. 1997;54:251-254
    • (1997) Arch Neurol , vol.54 , pp. 251-254
    • Spranger, M.1    Spranger, S.2    Tischendorf, M.3    Meinck, H.4    Cremer, M.5
  • 23
    • 0032895720 scopus 로고    scopus 로고
    • Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy
    • Martinello F, Piazza A, Pastorello E, Angelini C, Trevisan CP. Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy. J Neurol. 1999;246:186-192
    • (1999) J Neurol , vol.246 , pp. 186-192
    • Martinello, F.1    Piazza, A.2    Pastorello, E.3    Angelini, C.4    Trevisan, C.P.5
  • 24
    • 0028969777 scopus 로고
    • Neuroimaging study of myotonic dystrophy. Magnetic resonance imaging of the brain
    • Hashimoto T, Tayama M, Miyazaki M, et al. Neuroimaging study of myotonic dystrophy. Magnetic resonance imaging of the brain. Brain Dev. 1995;17:24-27
    • (1995) Brain Dev , vol.17 , pp. 24-27
    • Hashimoto, T.1    Tayama, M.2    Miyazaki, M.3
  • 25
    • 0030823195 scopus 로고    scopus 로고
    • A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy
    • Steyaert J, Umans S, Willekens D, et al. A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy. Clin Genet. 1997;52:135-141
    • (1997) Clin Genet , vol.52 , pp. 135-141
    • Steyaert, J.1    Umans, S.2    Willekens, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.