title: A practical approach to molecular diagnostic testing in neuromuscular diseases.
abstract: Molecular diagnosis is an important aspect in the care of patients with neuromuscular disorders. Because of the rapidly evolving nature of the field, the approach to obtaining a molecular diagnosis may be challenging. This article provides a general approach to molecular diagnostic testing while reviewing the principles of genetics and genetic disorders and the indications and limitations of testing methods in common hereditary neuromuscular disorders.
authors.affiliation: Division of Neuromuscular Disorders, Department of Neurology, Wexner Medical Center at the Ohio State University, The Ohio State University, 395 W. 12th Avenue, 7th Floor, Columbus, OH 43210, USA. William.Arnold@osumc.edu
authors.forename: W David
authors.initials: WD
authors.lastname: Arnold
authors.forename: Kevin M
authors.initials: KM
authors.lastname: Flanigan
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D025202:Molecular Diagnostic Techniques; D016472:Motor Neuron Disease / Q000175:diagnosis / Q000235:genetics; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics; D009468:Neuromuscular Diseases / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree