Does extensive scanning of the calpain-3 gene broaden the spectrum of LGMD2A phenotypes?
A non-invasive and cost-effective strategy, based on the high throughput denaturing HPLC analysis of DNA pools, was used to obtain unbiased information on the consequences of CAPN3 mutations in the largest genetic study ever undertaken. This broadens the spectrum of LGMD2A phenotypes and sets the carrier frequency at 1:103.
The artificial inflation seen with adjudication date PDC indicates that the prescription pickup date is a more accurate reflection of patient medication taking. Automatic refills resulted in a less reliable PDC compared with manual refill prescriptions. Discussion about the continued use of the adjudication date to calculate PDC is needed.