Literature DB >> 2722193

Myotonia congenita (Thomsen's disease) excluded from the region of the myotonic dystrophy locus on chromosome 19.

M Koch1, H Harley, M Sarfarazi, K Bender, T Wienker, B Zoll, P S Harper.   

Abstract

Linkage analysis has been carried out in six German families with autosomal dominantly inherited myotonia congenita (Thomsen's disease) using five chromosome 19 markers known to be linked to the gene for myotonic dystrophy (DM). Two of the markers, APOC1 and APOC2, are tightly linked to DM. Close linkage between these markers and myotonia congenita (MC) has been excluded to a distance of 9 cM (z = -2.158). These data support the clinical suggestion that MC and DM are non-allelic disorders.

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Year:  1989        PMID： 2722193     DOI： 10.1007/BF00284051

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  16 in total

Review 1.  Membrane changes in cells from myotonia patients.

Authors:  R Rüdel; F Lehmann-Horn
Journal:  Physiol Rev       Date:  1985-04       Impact factor: 37.312

2.  Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Authors:  L M Kunkel; K D Smith; S H Boyer; D S Borgaonkar; S S Wachtel; O J Miller; W R Breg; H W Jones; J M Rary
Journal:  Proc Natl Acad Sci U S A       Date:  1977-03       Impact factor: 11.205

3.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

4.  A physical map of the apolipoprotein gene cluster on human chromosome 19.

Authors:  O Myklebost; S Rogne
Journal:  Hum Genet       Date:  1988-03       Impact factor: 4.132

5.  Linkage relations of JK, CO, KEL and IGK with each other and with AHCY.

Authors:  K Bender; S Bissbort; H Crone; H Senff; A Steiert; H Neumann; M Koch; M Nagel; T F Wienker
Journal:  Hum Hered       Date:  1988       Impact factor: 0.444

6.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

7.  Dimorphic markers for the human apolipoprotein CII gene locus.

Authors:  P M Frossard; R T Coleman; H Funke; G Assmann
Journal:  Gene       Date:  1987       Impact factor: 3.688

8.  A common restriction fragment length polymorphism of the human apolipoprotein E gene and its relationship to type III hyperlipidaemia.

Authors:  E C Klasen; P J Talmud; L Havekes; E de Wit; E van der Kooij-Meijs; M Smit; G Hansson; S E Humphries
Journal:  Hum Genet       Date:  1987-03       Impact factor: 4.132

9.  Genetics and linkage relationships of the C3 polymorphism: discovery of C3-Se linkage and assignment of LES-C3-DM-Se-PEPD-Lu synteny to chromosome 19.

Authors:  H Eiberg; J Mohr; L S Nielsen; N Simonsen
Journal:  Clin Genet       Date:  1983-09       Impact factor: 4.438

10.  The apolipoprotein CII gene: subchromosomal localisation and linkage to the myotonic dystrophy locus.

Authors:  D J Shaw; A L Meredith; M Sarfarazi; S M Huson; J D Brook; O Myklebost; P S Harper
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
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  2 in total

1.  Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35.

Authors:  J A Abdalla; W L Casley; H K Cousin; A J Hudson; E G Murphy; F C Cornélis; L Hashimoto; G C Ebers
Journal:  Am J Hum Genet       Date:  1992-09       Impact factor: 11.025

2.  First Two Case Reports of Becker's Type Myotonia Congenita in Colombia: Clinical and Genetic Features.

Authors:  Jorge Andres Olave-Rodriguez; Francisco Javier Bonilla-Escobar; Estephania Candelo; Lisa Ximena Rodriguez-Rojas
Journal:  Appl Clin Genet       Date:  2021-12-16
  2 in total

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