First Moroccan Experience with Digital PCR for SMN1 and SMN2 Copy Number Analysis and Clinical Severity Prediction in Patients with Spinal Muscular Atrophy

Résumé fourni par la source

This retrospective Moroccan study analyzed 142 samples, including 133 SMA patients and 9 blinded healthy controls. Absolute quantification of SMN1 and SMN2 copy numbers was performed using the QuantStudio™ Absolute Q™ Digital PCR System (Applied Biosystems™). Disease severity was predicted according to established SMA phenotypic criteria and SMN2 copy number data. All samples were anonymized prior to analysis and submission. This work has been submitted to BMC Medical Genomics.