Skip to main content
Article thumbnail
Location of Repository

Congenital myotonic dystrophy in Britain. II. Genetic basis.

By P S Harper


Genetic analysis of 54 sibships containing 70 patients with congenital myotonic dystrophy has shown paternal transmission in only one case, the disorder being maternally transmitted in 51 sibships. No instance of new mutation was found. At least half the sibs were unaffected; 9 sibs were affected without definite congenital involvement. No evidence for genetic heterogeneity was found, most affected mothers having few or no symptoms. There was no disturbance of sex ratio for the affected grandparents, nor in the sibships of the affected parents. The genetic data from this study and from previous published reports support the clinic evidence that the congenital form of myotonic dystrophy results from a maternal intrauterine factor affecting those individuals carrying the myotonic dystrophy gene

Topics: Research Article
OAI identifier:
Provided by: PubMed Central
Download PDF:
Sorry, we are unable to provide the full text but you may find it at the following location(s):
  • http://www.pubmedcentral.nih.g... (external link)
  • Suggested articles

    To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.