Duchenne muscular dystrophy

書誌事項

Duchenne muscular dystrophy

Alan E.H. Emery

(Oxford monographs on medical genetics, no. 15)(Oxford medical publications)

Oxford University Press, 1987

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注記

Bibliography : p. 262 - 306

Include index

内容説明・目次

内容説明

Duchenne muscular dystrophy is the second most common genetic disorder affecting humans. This is the first book for many years to be devoted entirely to the disease, and is based both on the author's studies of some 200 patients and on a detailed review of the world literature. All aspects of the disease are covered, including its history, clinical features, involvement of tissues other than muscle, laboratory investigations, differential diagnosis, biochemistry, pathogenesis, genetics, molecular pathology, prevention, genetic counselling, and surgical and medical management. The design and execution of drug trials in the disease are also discussed. It is profusely illustrated with photographs and line drawings, and there is an extensive bibliography and an index.

目次

  • Introduction
  • History of the disease
  • Clinical features
  • Confirmation of the diagnosis
  • Differential diagnosis
  • Involvement of tissues other than skeletal muscle
  • Biochemistry of Duchenne muscular dystrophy
  • Pathogenesis
  • Genetics
  • Molecular pathology
  • Prevention
  • Genetic counselling
  • Management.

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