Advances in Experimental Medicine and Biology

Genetic Analysis of the X Chromosome

Studies of Duchenne Muscular Dystrophy and Related Disorders

Authors: Epstein, Henry F.

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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.

Table of contents (6 chapters)

Table of contents (6 chapters)

Buy this book

eBook $109.00
price for USA in USD
  • ISBN 978-1-4684-4346-2
  • Digitally watermarked, DRM-free
  • Included format:
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $139.99
price for USA in USD
  • ISBN 978-1-4684-4348-6
  • Free shipping for individuals worldwide
  • Institutional customers should get in touch with their account manager
  • Covid-19 shipping restrictions
  • Usually ready to be dispatched within 3 to 5 business days, if in stock
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Bibliographic Information

Bibliographic Information
Book Title
Genetic Analysis of the X Chromosome
Book Subtitle
Studies of Duchenne Muscular Dystrophy and Related Disorders
Authors
Series Title
Advances in Experimental Medicine and Biology
Series Volume
154
Copyright
1982
Publisher
Springer US
Copyright Holder
Plenum Press, New York
eBook ISBN
978-1-4684-4346-2
DOI
10.1007/978-1-4684-4346-2
Softcover ISBN
978-1-4684-4348-6
Series ISSN
0065-2598
Edition Number
1
Number of Pages
XVIII, 203
Topics