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Review
. 2012 Aug;23(3):589-608.
doi: 10.1016/j.pmr.2012.06.002.

A practical approach to molecular diagnostic testing in neuromuscular diseases

W David Arnold  1 , Kevin M Flanigan
Affiliations
Review

A practical approach to molecular diagnostic testing in neuromuscular diseases

W David Arnold et al. 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.

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