Genetic Analysis of the X Chromosome

Studies of Duchenne Muscular Dystrophy and Related Disorders

  • Henry F. Epstein
  • Stewart Wolf

Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 154)

Table of contents

  1. Front Matter
    Pages i-xviii
  2. Henry F. Epstein, Stewart Wolf
    Pages 1-24
  3. Henry F. Epstein, Stewart Wolf
    Pages 25-52
  4. Henry F. Epstein, Stewart Wolf
    Pages 53-78
  5. Henry F. Epstein, Stewart Wolf
    Pages 79-137
  6. Henry F. Epstein, Stewart Wolf
    Pages 139-164
  7. Henry F. Epstein, Stewart Wolf
    Pages 165-183
  8. Back Matter
    Pages 185-203

About this book


The present volume contains the edited transcript of a collo­ quium sponsored by the Muscular Dystrophy Association and held at Mountain Shadows Inn, Scottsdale, Arizona, December 14-16, 1981. The participants, geneticists, molecular biologists, bio­ chemists and clinicians, explored in open dialogue ways and means of identifying and characterizing the genetic alterations responsible for X-linked muscular dystrophies, especially the Duchenne type. The clinicians, who urged the use of properly diagnosed and documented case material for study, emphasized the troublesome fact that the primary phenotypic expression of the gene (or genes) involved in the muscular dystrophies is yet to be identified. Discussions centered on the applicability of recent methodol­ ogical advances in DNA chemistry and molecular biology, cytogenetics and cell biology to mapping the X chromosome. Despite ignorance of the basic disorder in the muscular dystrophies, DNA technologies and chromosome mapping strategies for the discovery of genetic defects and phenotypic expressions were proposed. Beyond its stimulating intellectual exchange, the colloquium yielded important benefits. The participants agreed to share needed cell lines and endonuclease restriction enzymes and to organize interlaboratory communication and collaborative efforts to accelerate progress in the quest for the genetic lesion in Duchenne muscular dystrophy. The discussions were recorded, transcribed, edited and to some extent, rearranged to fit into a sequence of chapters. The editors are grateful to Joy Colarusso Lowe whose unusual skill, patience and persistence made it possible to convert a highly specialized technical discussion into a coherent manuscript.


DNA biology cell biology chemistry chromosome cytogenetics enzymes genes genetics molecular biology

Editors and affiliations

  • Henry F. Epstein
    • 1
  • Stewart Wolf
    • 2
    • 3
  1. 1.The Jerry Lewis Neuromuscular Disease Research CenterBaylor College of MedicineHoustonUSA
  2. 2.Totts Gap Medical Research LaboratoriesBangorUSA
  3. 3.Temple UniversityPhiladelphiaUSA

Bibliographic information

  • DOI
  • Copyright Information Springer-Verlag US 1982
  • Publisher Name Springer, Boston, MA
  • eBook Packages Springer Book Archive
  • Print ISBN 978-1-4684-4348-6
  • Online ISBN 978-1-4684-4346-2
  • Series Print ISSN 0065-2598
  • Buy this book on publisher's site
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