In this Journal Club episode, we discuss the first comprehensive review dedicated to MFM13. We are proud to share that members of the Cure MFM13 team are co-authors of this landmark paper.

The review covers the known HSPB8 frameshift mutations leading to MFM13, their associated clinical phenotypes and histological findings, the role of HSPB8 in chaperone-assisted selective autophagy (CASA), and current gaps in understanding disease mechanisms and therapeutic strategies.

This episode is ideal for researchers, clinicians, patients, and advocates interested in MFM13, HSPB8 biology, protein quality control, and the path toward targeted therapies.