Congenital Myotonic Dystrophy: Canadian Population-Based Surveillance Study

Campbell, 2004, Congenital myotonic dystrophy: assisted ventilation duration and outcome, Pediatrics, 113, 811, 10.1542/peds.113.4.811 Prendergast, 2010, Congenital myotonic dystrophy in a national registry, Paediatr Child Health, 15, 514, 10.1093/pch/15.8.514 Mathieu, 1990, Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada), Neurology, 40, 839, 10.1212/WNL.40.5.839 Darin, 2000, Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden, Neuromuscul Disord, 10, 1, 10.1016/S0960-8966(99)00055-3 Wesstrom, 1986, Congenital myotonic dystrophy. Incidence, clinical aspects and early prognosis, Acta Paediatrica Scandinavica, 75, 849, 10.1111/j.1651-2227.1986.tb10301.x Gonzalez De Dios, 1999, [Epidemiological study of Steinert's congenital myotonic dystrophy: dysmorphological characteristics], Anales Espanoles de Pediatria, 51, 389 Harper, 1975, Congenital myotonic dystrophy in Britain. II. Genetic basis, Arch Disease Child, 50, 514, 10.1136/adc.50.7.514 Harper, 1975, Congenital myotonic dystrophy in Britain. I. Clinical aspects, Arch Dis Child, 50, 505, 10.1136/adc.50.7.505 Richer, 2001, Diagnostic profile of neonatal hypotonia: an 11-year study, Pediatr Neurol, 25, 32, 10.1016/S0887-8994(01)00277-6 Floriach-Robert, 2001, [Neonatal hypotonia of muscular origin: analysis of 50 cases.], Neurologia, 16, 245 Tsilfidis, 1992, Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy, Nature Genetics, 1, 192, 10.1038/ng0692-192 De Die-Smulders, 1997, Paternal transmission of congenital myotonic dystrophy, J Med Genet, 34, 930, 10.1136/jmg.34.11.930 Bergoffen, 1994, Paternal transmission of congenital myotonic dystrophy, J Med Genet, 31, 518, 10.1136/jmg.31.7.518 Redman, 1993, Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring, JAMA, 269, 1960, 10.1001/jama.1993.03500150072029 Faulkner, 1998, Knowledge, views, and experience of 25 women with myotonic dystrophy, J Med Genet, 35, 1020, 10.1136/jmg.35.12.1020 Roig, 1994, Presentation, clinical course, and outcome of the congenital form of myotonic dystrophy, Pediatr Neurol, 11, 208, 10.1016/0887-8994(94)90104-X Reardon, 1993, The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects, Arch Dis Child, 68, 177, 10.1136/adc.68.2.177 Rutherford, 1989, Congenital myotonic dystrophy: respiratory function at birth determines survival, Arch Dis Child, 64, 191, 10.1136/adc.64.2.191 Hageman, 1993, Congenital myotonic dystrophy: a report on 13 cases and a review of the literature, J Neurol Sci, 115, 95, 10.1016/0022-510X(93)90072-7 Connolly, 1992, Clinical features for prediction of survival in neonatal muscle disease, Pediatr Neurol, 8, 285, 10.1016/0887-8994(92)90367-8 Horan, 2001, Severe congenital myotonic dystrophy and severe anaemia of prematurity in an infant of Jehovah's Witness parents, Dev Med Child Neurol, 43, 346, 10.1017/S0012162201000639 Lee, 1999, Survival of a 30-week baby with congenital myotonic dystrophy initially ventilated for 55 days, J Paediatr Child Health, 35, 313, 10.1046/j.1440-1754.1999.00318.x Keller, 1998, Congenital myotonic dystrophy requiring prolonged endotracheal and noninvasive assisted ventilation: not a uniformly fatal condition, Pediatrics, 101, 704, 10.1542/peds.101.4.704 Campbell C, Magalhaes S, Lyttle B, Frewen T, Levin S. Prolonged Ventilation in congenital DM. 5th International Myotonic Dystrophy Consortium Meeting, Quebec, Canada 2005. p. 101. Wallgren-Pettersson, 2004, 117th ENMC workshop: ventilatory support in congenital neuromuscular disorders—congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy, and SMA (II) 4-6 April 2003, Naarden, The Netherlands, Neuromuscular Dis, 14, 56, 10.1016/j.nmd.2003.09.003 Joseph, 1997, Congenital myotonic dystrophy pathology and somatic mosaicism, Neurology, 49, 1457, 10.1212/WNL.49.5.1457 Tachi, 1996, CTG repeat size and histologic findings of skeletal muscle from patients with congenital myotonic dystrophy, J Child Neurol, 11, 430, 10.1177/088307389601100602 Farkas-Bargeton, 1988, Immaturity of muscle fibers in the congenital form of myotonic dystrophy: its consequences and its origin, J Neurol Sci, 83, 145, 10.1016/0022-510X(88)90064-0