Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective.

Fanny ThuriotElaine GravelCaroline BuoteMarianne DoyonElvy LapointeLydia MarcouxSandrine LarueAmélie NadeauSébastien ChénierPaula J WatersPierre-Étienne JacquesSerge GravelSébastien Lévesque

Published in: Neurology. Genetics (2020)

Our study supports the use of gene panel testing in patients with suspected muscle disorders from outpatient clinics. It also shows that exome sequencing has a low risk of missing diagnoses compared with gene panel, while potentially increasing the diagnostic yield of patients with muscle disorders.

Keyphrases

copy number
primary care
skeletal muscle
genome wide
genome wide identification
resistance training
transcription factor