Literature DB >> 3292577

Molecular analysis of muscular dystrophy.

K E Davies1, S J Kenwrick, M N Patterson, T J Smith, S M Forrest, H R Dorkins, G S Cross, S B England.   

Abstract

It is now possible to map almost any disease locus to a chromosomal region in the human genome by family studies with restriction fragment length polymorphisms. Duchenne and Becker muscular dystrophies have been shown to be localized within the same small region of Xp21 on the human X chromosome. Myotonic dystrophy has been localized to a region close to the centromere of chromosome 19. Technologies are now available to identify candidate genes for the diseases. Autosomal recessive muscular dystrophies are more difficult to study, but even these will be amenable to analysis in the very near future. The next decade should witness some exciting advances in the molecular analysis and clinical management of human muscular dystrophies.

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Year:  1988        PMID: 3292577     DOI: 10.1007/bf01682143

Source DB:  PubMed          Journal:  J Muscle Res Cell Motil        ISSN: 0142-4319            Impact factor:   2.698


  49 in total

1.  Survival in x-chromosomal muscular dystrophy.

Authors:  F E DREIFUSS; G R HOGAN
Journal:  Neurology       Date:  1961-08       Impact factor: 9.910

2.  Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome.

Authors:  N S Thomas; H Williams; L J Elsas; L C Hopkins; M Sarfarazi; P S Harper
Journal:  J Med Genet       Date:  1986-12       Impact factor: 6.318

3.  Is nebulin the defective gene product in Duchenne muscular dystrophy?

Authors:  D S Wood; M Zeviani; A Prelle; E Bonilla; G Salviati; A F Miranda; S DiMauro; L P Rowland
Journal:  N Engl J Med       Date:  1987-01-08       Impact factor: 91.245

4.  Directional cloning of DNA fragments at a large distance from an initial probe: a circularization method.

Authors:  F S Collins; S M Weissman
Journal:  Proc Natl Acad Sci U S A       Date:  1984-11       Impact factor: 11.205

5.  Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis.

Authors:  D C Schwartz; C R Cantor
Journal:  Cell       Date:  1984-05       Impact factor: 41.582

6.  Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.

Authors:  M Koenig; E P Hoffman; C J Bertelson; A P Monaco; C Feener; L M Kunkel
Journal:  Cell       Date:  1987-07-31       Impact factor: 41.582

Review 7.  Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

Authors:  D Botstein; R L White; M Skolnick; R W Davis
Journal:  Am J Hum Genet       Date:  1980-05       Impact factor: 11.025

8.  A linkage study of Emery-Dreifuss muscular dystrophy.

Authors:  S Hodgson; E Boswinkel; C Cole; A Walker; V Dubowitz; C Granata; L Merlini; M Bobrow
Journal:  Hum Genet       Date:  1986-12       Impact factor: 4.132

9.  Origin of new mutations in Duchenne muscular dystrophy.

Authors:  L Roncuzzi; A Ferlini; A Pirozzi; G Romeo
Journal:  Hum Genet       Date:  1986-12       Impact factor: 4.132

10.  Carrier detection and prenatal diagnosis in X linked muscular dystrophy using restriction fragment length polymorphisms.

Authors:  M Lindlöf; H Kääriäinen; K E Davies; A de la Chapelle
Journal:  J Med Genet       Date:  1986-12       Impact factor: 6.318

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  2 in total

1.  Physiological properties of skinned fibres from normal and dystrophic (Duchenne) human muscle activated by Ca2+ and Sr2+.

Authors:  R H Fink; D G Stephenson; D A Williams
Journal:  J Physiol       Date:  1990-01       Impact factor: 5.182

2.  Mitochondrial Dysfunction Is an Early Consequence of Partial or Complete Dystrophin Loss in mdx Mice.

Authors:  Timothy M Moore; Amanda J Lin; Alexander R Strumwasser; Kevin Cory; Kate Whitney; Theodore Ho; Timothy Ho; Joseph L Lee; Daniel H Rucker; Christina Q Nguyen; Aidan Yackly; Sushil K Mahata; Jonathan Wanagat; Linsey Stiles; Lorraine P Turcotte; Rachelle H Crosbie; Zhenqi Zhou
Journal:  Front Physiol       Date:  2020-06-19       Impact factor: 4.566

  2 in total

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