The role of muscle biopsy in the age of genetic testing

Curr Opin Neurol. 2009 Oct;22(5):543-53. doi: 10.1097/WCO.0b013e32832ffc60.


Purpose of review: The purpose of this review is to discuss the role of muscle biopsy in the current age of genetic testing.

Recent findings: The diagnostic approach to patients with suspected genetically determined myopathies has been altered by recent advances in molecular diagnostic technologies and by the increased number of conditions for which the genetic alterations have been identified. Myopathological aspects can narrow down the differential diagnosis when the clinical phenotype is not informative enough and can help guide the molecular investigation.

Summary: Here, we review genetic and myopathological aspects of selected genetically determined myopathies.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Biopsy / methods
  • Genetic Testing / methods*
  • Humans
  • Muscle, Skeletal / pathology*
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology*