Neuromuscular disorders : clinical and molecular genetics

書誌事項

Neuromuscular disorders : clinical and molecular genetics

edited by Alan E.H. Emery

J. Wiley, c1998

大学図書館所蔵 件 / 4

この図書・雑誌をさがす

注記

Includes bibliographical references and index

内容説明・目次

内容説明

This text presents a comprehensive overview of the current understanding of the molecular pathology of neuromuscular disorders. For each of 20 disorders, the leading international authorities in the field review: clinical features, pathology, inheritance, molecular genetics, screening, prenatal diagnosis, prevention and counselling, and possible treatment by drug or gene therapy.

目次

  • Molecular genetics of muscular disorders
  • congenital muscular dystrophies
  • Duchenne & Becker muscular dystrophies
  • Emery-Dreifuss muscular dystrophy
  • facioscapulohueral muscular dystrophy
  • limb girdle muscular dystrophies
  • oculo-pharyngeal muscular dystrophy
  • distal myopathies and related disorders
  • mitochondrial myopathies
  • central core disease
  • desminopathies
  • nemaline myopathy
  • myotubular myopathy
  • fibrodysplasia ossificans progressiva
  • myotonic dystrophy
  • non-dystrophic myotonias
  • spinal muscular atrophy
  • familial ALS
  • congenetial myasthenic syndromes
  • hereditary neuropathies
  • post-polio muscle dysfunction.

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