Molecular basis of neuromuscular diseases.
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.
Chance
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PF
Neurogenetics Laboratory, Children's Hospital of Philadelphia, Pennsylvania, USA.
Ashizawa
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Hoffman
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EP
Crawford
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TO
D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D002874:Chromosome Mapping; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D008967:Molecular Biology; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D009223:Myotonic Dystrophy / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy