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Duchenne Muscular Dystrophy.

By: Contributor(s): Material type: TextTextSeries: Oxford Monographs on Medical Genetics SeriesPublisher: Oxford : Oxford University Press, Incorporated, 2015Copyright date: ©2015Edition: 4th edDescription: 1 online resource (319 pages)Content type:
  • text
Media type:
  • computer
Carrier type:
  • online resource
ISBN:
  • 9780191503658
Subject(s): Genre/Form: Additional physical formats: Print version:: Duchenne Muscular DystrophyDDC classification:
  • 616.7/48
LOC classification:
  • RJ482.D78 -- .E447 2015eb
Online resources:
Contents:
Cover -- Contents -- Symbols and abbreviations -- 1 Introduction to Duchenne muscular dystrophy -- 2 History of the disease -- 3 Clinical features -- 4 Confirmation of the diagnosis -- 5 Differential diagnosis -- 6 Involvement of tissues other than skeletal muscle -- 7 Biochemistry of Duchenne muscular dystrophy -- 8 Genetics -- 9 Molecular pathology -- 10 Pathogenesis -- 11 Prevention -- 12 Genetic counselling -- 13 Management -- Appendix 1 Egen Klassifikation Scale Version 2 (EK2) -- Appendix 2 The North Star Ambulatory Assessment -- Appendix 3 Muscular Dystrophy Associations and Groups in Various Countries (2013) -- Index.
Summary: Fully revised and updated the new edition of Duchenne Muscular Dystrophy discusses the recent advances in the field of molecular biology for prenatal diagnosis and genetic counselling to the recent pioneering work with anti-sense oligonucleotides, and the possibility of effective RNA therapy.
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Cover -- Contents -- Symbols and abbreviations -- 1 Introduction to Duchenne muscular dystrophy -- 2 History of the disease -- 3 Clinical features -- 4 Confirmation of the diagnosis -- 5 Differential diagnosis -- 6 Involvement of tissues other than skeletal muscle -- 7 Biochemistry of Duchenne muscular dystrophy -- 8 Genetics -- 9 Molecular pathology -- 10 Pathogenesis -- 11 Prevention -- 12 Genetic counselling -- 13 Management -- Appendix 1 Egen Klassifikation Scale Version 2 (EK2) -- Appendix 2 The North Star Ambulatory Assessment -- Appendix 3 Muscular Dystrophy Associations and Groups in Various Countries (2013) -- Index.

Fully revised and updated the new edition of Duchenne Muscular Dystrophy discusses the recent advances in the field of molecular biology for prenatal diagnosis and genetic counselling to the recent pioneering work with anti-sense oligonucleotides, and the possibility of effective RNA therapy.

Description based on publisher supplied metadata and other sources.

Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, 2024. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries.

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