Literature DB >> 6154782

Dominant myotonia congenita: pedigree with skipping of one generation.

E Boltshauser, M Meyer, M Metaxas, M Mahler, H Schiller.   

Abstract

The skipping of one generation in a family pedigree with dominant myotonia congenita is reported. It is suggested that non-penetrance in this condition occurs and should be considered in genetic counselling as a rare, but realistic possibility.

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Year:  1980        PMID： 6154782     DOI： 10.1007/BF00313152

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


  8 in total

1.  Myxedema, pseudomyotonia, and myotonia congenita.

Authors:  L W JARCHO; F H TYLER
Journal:  AMA Arch Intern Med       Date:  1958-09

2.  [Manifestation of myotonic disturbances of muscle function under continuous intravenous drip treatment with the beta-adrenergic th 1165 a (fenoterolhydrobromide) (author's transl)].

Authors:  B Liedtke; M Kerschensteiner
Journal:  Z Geburtshilfe Perinatol       Date:  1974-08

3.  [Genetic counseling in myotonia and muscular dystrophy].

Authors:  P E Becker
Journal:  Internist (Berl)       Date:  1978-08       Impact factor: 0.743

4.  Heterozygote manifestation in recessive generalized myotonia.

Authors:  P E Becker
Journal:  Hum Genet       Date:  1979-02-15       Impact factor: 4.132

5.  Fenoterol precipitating myotonia in a minimally affected case of recessive myotonia congenita.

Authors:  K Ricker; A Haass; F Glötzner
Journal:  J Neurol       Date:  1978-12-22       Impact factor: 4.849

6.  Hypothyroidism with true myotonia.

Authors:  G S Venables; D Bates; D A Shaw
Journal:  J Neurol Neurosurg Psychiatry       Date:  1978-11       Impact factor: 10.154

7.  Myotonia precipitated by propranolol therapy.

Authors:  W Blessing; J C Walsh
Journal:  Lancet       Date:  1977-01-08       Impact factor: 79.321

8.  [Myotonia congenita (Thomsen's disease); clinical observations in two siblings].

Authors:  R TOBLER
Journal:  Helv Paediatr Acta       Date:  1954-10
  8 in total

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