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Muscular dystrophy overview: genetics and diagnosis
Journal article   Peer reviewed

Muscular dystrophy overview: genetics and diagnosis

Neurologic clinics, Vol.21(4), pp.795-816
11/2003
DOI: 10.1016/S0733-8619(03)00065-3
PMID: 14743650

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Abstract

A specific genetic diagnosis can be reached for most children with muscular dystrophy. Advanced diagnostics, including genetic testing and analysis of nonmuscle tissues, such as skin and blood, often allow the diagnosis to be reached using minimally invasive procedures. These diagnostic advances accompany improved understanding of pathophysiology and pave the way for specific and curative treatments.
Diagnosis, Differential Muscular Dystrophies - genetics Muscular Dystrophies - pathology Humans Muscular Dystrophies - classification

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