Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).
Sara AgutiGian Nicola GallusSilvia BianchiSimona SalvatoreAnna RubegniGianna BertiPatrizia FormichiNicola De StefanoAlessandro MalandriniDiego LopergoloPublished in: Cells (2024)
full-length transcript in urine and skin samples. Moreover, we demonstrated surprisingly comparable CAPN3 protein levels between muscle and skin samples, thus allowing us to hypothesize the use of skin biopsy and probably of urine samples as an alternative less invasive method to assess the amount of CAPN3 when molecular diagnosis turns out to be inconclusive.