Chinese researchers have studied ways of improving screening for women with Duchenne muscular dystrophy (DMD):
- apart from DMD gene genotyping, creatine phosphokinase (CPK) blood testing has until now been the only simple and cheap biomarker,
- because of the large number of false negatives with this method, the value of other biomarkers has been explored,
- in particular the MM fraction of CPK (CPK-MM) and the receptor for a proto-oncogenic tyrosine kinase (RET),
- the combination of the two biomarkers in the form of a ratio has increased specificity from 70% to 93%.
This promising method can be performed on samples collected on blotting paper.
