The role of muscle biopsy in the age of genetic testing.
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.
O'Ferrall
Erin K
EK
Department of Neurology and Neurosurgery, McGill University, Montreal Neurological Institute, Montreal, Quebec, Canada.
Sinnreich
Michael
M
D001706:Biopsy / Q000379:methods; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology*; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology*