Congenital Myotonic Dystrophy

OBJECTIVES To determine the incidence and neonatal morbidity and mortality of congenital myotonic dystrophy (CDM) in Canada… (More)

Myotonic dystrophy is the most common muscular dystrophy in adults and the first recognized example of an RNA-mediated disease… (More)

We present the pathology and molecular genetic analysis of an infant with congenital myotonic dystrophy. The proband/infant, born… (More)

The myotonic dystrophy (DM) mutation has recently been identified as an unstable trinucleotide CTG repeat which is present 5–30… (More)

We studied seven children with congenital myotonic dystrophy, aged 2.1-8.3 years, and the results of computed tomography and… (More)

Seven young patients (mean age 19 years 8 months) with congenital myotonic dystrophy and with defined symptoms at birth were… (More)

Dysfunction of smooth muscles is not unusual in adults suffering from myotonic dystrophy but has not yet been reported in… (More)

Harper, P. S. (1975). Archives of Disease in Childhood, 50, 505. Congenital myotonic dystrophy in Britain. I. Clinical aspects. A… (More)

A clinical and genetic study of congenital myotonic dystrophy in Britain has been carried out in 70 patients from 54 sibships… (More)

Genetic analysis of 54 sibships containing 70 patients with congenital myotonic dystrophy has shown paternal transmission in only… (More)