Dystrophin immunohistochemistry in muscular dystrophies on formalin fixed paraffin embedded tissue

Muscle biopsy with proper immunohistochemistry (ihc) is the gold-standard to distinguish muscular dystrophies (deadly degenerative disorders). immunohistochemistry detects the mutated proteins of muscular dystrophics. presently ihc is performed on fresh frozen muscle biopsy specimens. this study was performed on 32 children suffering from various types of muscular dystrophies. among them 71.87% (n = 23) were diagnosed as dmd,whereas 31.25%(n = 10) were diagnosed as bmd and the remaining one case (3.12%) as lgmd. nine of the 32 patients were females. it shows that ihc can also be performed on formalin fixed paraffin embedded muscle tissues. in this study comprising of 23 males and 9 females,we used paraffin blocks of skeletal muscle tissue and performed ihc using dystrophin and β-spectrin antibodies in the diagnosis of various types of muscular dystrophies. in pakistan diagnosis of muscular dystrophies is still dependent on clinical features and creatine phosphokinase (cpk) values. this is the first study from the subcontinent performing immunohistochemistry successfully on formaline fixed paraffin embedded (ffpe) blocks for the diagnosis of muscular dystrophies. copyright 2010 zoological society of pakistan.