Muscular dystrophy overview: genetics and diagnosis.
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.
Mathews
Katherine D
KD
Department of Pediatrics, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52240, USA. katherine-mathews@uiowa.edu
D003937:Diagnosis, Differential; D006801:Humans; D009136:Muscular Dystrophies / Q000145:classification / Q000235:genetics* / Q000473:pathology*