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A practical approach to molecular diagnostic testing in neuromuscular diseases

ARNOLD WD; FLANIGAN KM
PHYS MED REHABIL CLIN N AM , 2012, vol. 23, n° 3, p. 589-608
Doc n°: 160047
Localisation : Documentation IRR

D.O.I. : http://dx.doi.org/DOI:10.1016/j.pmr.2012.06.002
Descripteurs : AB31 - DYSTROPHIES MUSCULAIRES

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.
CI - Copyright (c) 2012 Elsevier Inc. All rights reserved.

Langue : ANGLAIS

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