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Literature DB >> 2703233

Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM).

H G Brunner¹, R G Korneluk, M Coerwinkel-Driessen, A MacKenzie, H Smeets, H M Lambermon, B A van Oost, B Wieringa, H H Ropers.

Abstract

We have studied genetic linkage between the gene for creatine kinase muscle type (CKMM) and the gene for myotonic dystrophy (DM). In a panel of 65 myotonic dystrophy families from Canada and the Netherlands, a maximum lod score (Zmax) of 22.8 at a recombination frequency (theta) of 0.03 was obtained. Tight linkage was also demonstrated for CKMM and the gene for apolipoprotein C2 (ApoC2). This establishes CKMM as a useful marker for myotonic dystrophy.

Entities: Disease Gene

Mesh：

Substances：

Year: 1989 PMID： 2703233 DOI： 10.1007/BF00283680

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

20 in total

1. The isolation and characterization of cDNA clones for human apolipoprotein CII.

Authors: O Myklebost; B Williamson; A F Markham; S R Myklebost; J Rogers; D E Woods; S E Humphries
Journal: J Biol Chem Date: 1984-04-10 Impact factor: 5.157

2. "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum.

Authors: A P Feinberg; B Vogelstein
Journal: Anal Biochem Date: 1984-02 Impact factor: 3.365

3. A strategy to reveal high-frequency RFLPs along the human X chromosome.

Authors: J Aldridge; L Kunkel; G Bruns; U Tantravahi; M Lalande; T Brewster; E Moreau; M Wilson; W Bromley; T Roderick
Journal: Am J Hum Genet Date: 1984-05 Impact factor: 11.025

4. A new probe for the diagnosis of myotonic muscular dystrophy.

Authors: R J Bartlett; M A Pericak-Vance; L Yamaoka; J Gilbert; M Herbstreith; W Y Hung; J E Lee; T Mohandas; G Bruns; C Laberge
Journal: Science Date: 1987-03-27 Impact factor: 47.728

5. Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19.

Authors: M A Pericak-Vance; L H Yamaoka; R I Assinder; W Y Hung; R J Bartlett; J M Stajich; P C Gaskell; D A Ross; S Sherman; G H Fey
Journal: Neurology Date: 1986-11 Impact factor: 9.910

6. 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

7. A DNA polymorphism adjacent to the human apolipoprotein CII gene.

Authors: S E Humphries; N I Jowett; L Williams; A Rees; M Vella; A Kessling; O Myklebost; A Lydon; M Seed; D J Galton
Journal: Mol Biol Med Date: 1983-12

8. The isolation of a genomic clone containing the apolipoprotein CII gene and the detection of linkage disequilibrium between two common DNA polymorphisms around the gene.

Authors: S C Wallis; J A Donald; L A Forrest; R Williamson; S E Humphries
Journal: Hum Genet Date: 1984 Impact factor: 4.132

9. Rabbit muscle creatine phosphokinase. CDNA cloning, primary structure and detection of human homologues.

Authors: S Putney; W Herlihy; N Royal; H Pang; H V Aposhian; L Pickering; R Belagaje; K Biemann; D Page; S Kuby
Journal: J Biol Chem Date: 1984-12-10 Impact factor: 5.157

10. Application of a closely linked polymorphism of restriction fragment length to counselling and prenatal testing in families with myotonic dystrophy.

Authors: A L Meredith; S M Huson; P W Lunt; M Sarfarazi; H G Harley; J D Brook; D J Shaw; P S Harper
Journal: Br Med J (Clin Res Ed) Date: 1986-11-22

16 in total

1. The physical map of chromosome arm 19q: some new assignments, confirmations and re-assessments.

Authors: J D Brook; S J Knight; S H Roberts; H G Harley; K V Walsh; S A Rundle; K Freyne; M C Koch; N D Epstein; B Wieringa
Journal: Hum Genet Date: 1991-05 Impact factor: 4.132

2. Localisation of the myotonic dystrophy locus to 19q13.2-19q13.3 and its relationship to twelve polymorphic loci on 19q.

Authors: H G Harley; K V Walsh; S Rundle; J D Brook; M Sarfarazi; M C Koch; J L Floyd; P S Harper; D J Shaw
Journal: Hum Genet Date: 1991-05 Impact factor: 4.132

3. Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec.

Authors: Vania Yotova; Damian Labuda; Ewa Zietkiewicz; Dominik Gehl; Alan Lovell; Jean-François Lefebvre; Stéphane Bourgeois; Emilie Lemieux-Blanchard; Marcin Labuda; Hélène Vézina; Louis Houde; Marc Tremblay; Bruno Toupance; Evelyne Heyer; Thomas J Hudson; Claude Laberge
Journal: Hum Genet Date: 2005-05-10 Impact factor: 4.132

4. Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy.

Authors: H J Smeets; H G Brunner; H H Ropers; B Wieringa
Journal: Hum Genet Date: 1989-10 Impact factor: 4.132

5. Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers.

Authors: A M Norman; J L Floyd; A L Meredith; P S Harper
Journal: J Med Genet Date: 1989-12 Impact factor: 6.318

6. 3' creatine kinase (M-type) polymorphisms linked to myotonic dystrophy in Italian and Spanish populations.

Authors: M Gennarelli; G Novelli; A Cobo; M Baiget; B Dallapiccola
Journal: Hum Genet Date: 1991-10 Impact factor: 4.132

7. Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases.

Authors: L Martorell; I Illa; J Rosell; J Benitez; M J Sedano; M Baiget
Journal: J Med Genet Date: 1996-09 Impact factor: 6.318

8. Assessment of a creatine kinase isoform M defect as a cause of myotonic dystrophy and the characterization of two novel CKMM polymorphisms.

Authors: J Bailly; A E MacKenzie; S Leblond; R G Korneluk
Journal: Hum Genet Date: 1991-03 Impact factor: 4.132

9. Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population.

Authors: A Cobo; D Grinberg; S Balcells; L Vilageliu; R Gonzàlez-Duarte; M Baiget
Journal: Hum Genet Date: 1992-05 Impact factor: 4.132

10. A study of DNA methylation in myotonic dystrophy.

Authors: D J Shaw; S Chaudhary; S A Rundle; S Crow; J D Brook; P S Harper; H G Harley
Journal: J Med Genet Date: 1993-03 Impact factor: 6.318