Article
Myotonic dystrophy type I in childhood Long-term evolution in patients surviving the neonatal period.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2008
Echenne Bernard, Rideau Aline, Roubertie Agathe, Sébire Guillaume, Rivier François, Lemieux Bernard
Abstract excerpt
In a retrospective study, 32 patients with myotonic dystrophy, including congenital (n=17) and infantile/juvenile forms (n=15) were studied during a long follow-up lasting 7-28 years (median: 17 years). The clinical presentation was extremely variable; however, a continuum did exist between severe and less severe congenital forms, and later-onset forms, without genotype-phenotype correlation. We observed some...
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