Congenital Myotonic Dystrophy

Known as: Dystrophies, Congenital Myotonic, Myotonic Dystrophy, Congenital, Dystrophy, Congenital Myotonic 
Myotonic dystrophy that is present at birth.
National Institutes of Health

Papers overview

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2013
2013
OBJECTIVES To determine the incidence and neonatal morbidity and mortality of congenital myotonic dystrophy (CDM) in Canada… (More)
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Highly Cited
2011
Highly Cited
2011
Myotonic dystrophy is the most common muscular dystrophy in adults and the first recognized example of an RNA-mediated disease… (More)
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1997
1997
We present the pathology and molecular genetic analysis of an infant with congenital myotonic dystrophy. The proband/infant, born… (More)
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Highly Cited
1992
Highly Cited
1992
The myotonic dystrophy (DM) mutation has recently been identified as an unstable trinucleotide CTG repeat which is present 5–30… (More)
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1992
1992
We studied seven children with congenital myotonic dystrophy, aged 2.1-8.3 years, and the results of computed tomography and… (More)
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1990
1990
Seven young patients (mean age 19 years 8 months) with congenital myotonic dystrophy and with defined symptoms at birth were… (More)
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1977
1977
Dysfunction of smooth muscles is not unusual in adults suffering from myotonic dystrophy but has not yet been reported in… (More)
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1975
1975
Harper, P. S. (1975). Archives of Disease in Childhood, 50, 505. Congenital myotonic dystrophy in Britain. I. Clinical aspects. A… (More)
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1975
1975
A clinical and genetic study of congenital myotonic dystrophy in Britain has been carried out in 70 patients from 54 sibships… (More)
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1975
1975
Genetic analysis of 54 sibships containing 70 patients with congenital myotonic dystrophy has shown paternal transmission in only… (More)
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