From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies.

ABSTRACT: Muscular dystrophies are a large heterogeneous group of inherited diseases that cause progressive muscle weakness and permanent muscle damage. Very few muscular dystrophies show sufficient specific clinical features to allow a definite diagnosis. Because of the currently limited capacity to screen for numerous genes simultaneously, muscle biopsy is a time and cost-effective test for many of these disorders. Protein analysis interpreted in correlation with the clinical phenotype is a useful way of directing genetic testing in many types of muscular dystrophies. Immunohistochemistry and western blot are complementary techniques used to gather quantitative and qualitative information on the expression of proteins involved in this group of diseases. Immunoanalysis has a major diagnostic applic

SUBMITTER: Barresi R 

PROVIDER: S-EPMC3156647 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature