Immunocytochemical analysis of human muscular dystrophy

Immunocytochemistry is an essential tool for the assessment of muscle biopsies from patients with muscular dystrophy, especially the recessive forms. Antibodies can detect primary defects when there is an alteration in expression, in particular in Xp21 muscular dystrophies, Emery-Dreifuss muscular dystrophy, the limb-girdle dystrophies caused by abnormal expression of the sarcoglycans, and in the form of congenital muscular dystrophy linked to the gene for laminin alpha2. Absence of a protein is easily observed and reduction in expression can be assessed provided adequate controls and baselines are established. Assessment of secondary defects can also be of diagnostic value; they widen the understanding of pathology changes, and are helping in the development of therapeutic strategies.