title: The role of muscle biopsy in the age of genetic testing.
abstract: OBJECTIVE
  The purpose of this review is to discuss the role of muscle biopsy in the current age of genetic testing.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  Here, we review genetic and myopathological aspects of selected genetically determined myopathies.
authors.affiliation: Department of Neurology and Neurosurgery, McGill University, Montreal Neurological Institute, Montreal, Quebec, Canada.
authors.forename: Erin K
authors.initials: EK
authors.lastname: O'Ferrall
authors.forename: Michael
authors.initials: M
authors.lastname: Sinnreich
mesh_terms: D001706:Biopsy / Q000379:methods; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology*; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology*