Review
doi: 10.1016/j.pmr.2012.06.002.
A practical approach to molecular diagnostic testing in neuromuscular diseases
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- PMID: 22938877
- DOI: 10.1016/j.pmr.2012.06.002
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Review
A practical approach to molecular diagnostic testing in neuromuscular diseases
Phys Med Rehabil Clin N Am.
2012 Aug.
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.
Copyright © 2012 Elsevier Inc. All rights reserved.
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