Literature DB >> 1171415

Myotonic dystrophy: opportunities for prenatal prediction.

H G Schrott, G S Omenn.   

Abstract

Prenatal prediction of the inheritance of myotonic dystrophy in a family with affected individuals feasible in special cases when analysis of linkage to the secretor gene (determing ABH substances) can be carried out. We report a large kindred having multiple members affected with variable degrees of severity of myotonic dystrophy and having several matings for which linkage analysis is feasible. Even though this approach is not applicable for most families and although the process of genetic recombination complicates the analysis, in individual cases the use of linkage in prenatal or postnatal prediction of myotonic dystrophy may be very helpful for early diagnosis, more precise genetic counseling, and family planning.

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Year:  1975        PMID: 1171415     DOI: 10.1212/wnl.25.8.789

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  4 in total

1.  Myotonic dystrophy--early detection and genetic counselling.

Authors:  T Schubert; F Jerusalem; A C Martenet; M Metaxas; M Meyer
Journal:  J Neurol       Date:  1980       Impact factor: 4.849

2.  Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.

Authors:  Y W Kan; A M Dozy
Journal:  Proc Natl Acad Sci U S A       Date:  1978-11       Impact factor: 11.205

3.  Myotonia congenita and myotonic dystrophy: descriptive epidemiological investigation in Turin, Italy (1955-1979).

Authors:  L Pinessi; L Bergamini; R Cantello; C Di Tizio
Journal:  Ital J Neurol Sci       Date:  1982-10

4.  A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.

Authors:  R L Nussbaum; W E Crowder; W L Nyhan; C T Caskey
Journal:  Proc Natl Acad Sci U S A       Date:  1983-07       Impact factor: 11.205

  4 in total

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