Molecular basis of neuromuscular disease

P. F. Chance, T. Ashizawa, E. P. Hoffman, T. O. Crawford

Research output: Contribution to journalReview article

Abstract

For many neuromuscular disorders, the chromosomal location is known, the causal gene has been identified, and direct application of this knowledge may be made in a clinical setting. The benefits resulting from molecular-based methods include improved diagnostic accuracy and genetic counseling for patients and other at-risk family members. This chapter discusses in detail four of the most frequently encountered neuromuscular disorders. These diseases include spinal muscular atrophy, Charcot-Marie-Tooth neuropathy, Duchenne/Becker type muscular dystrophy, and myotonic dystrophy.

Original languageEnglish (US)
Pages (from-to)49-81
Number of pages33
JournalPhysical Medicine and Rehabilitation Clinics of North America
Volume9
Issue number1
StatePublished - Apr 4 1998
Externally publishedYes

ASJC Scopus subject areas

  • Physical Therapy, Sports Therapy and Rehabilitation
  • Rehabilitation

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