In this Journal Club episode, we discuss the publication by Iannibelli, Ruggieri and colleagues investigating the role of aggrephagy - the cellular process responsible for clearing protein aggregates - in a multicentric cohort of 52 MFM patients. We explore how aggrephagy markers are elevated across all MFM subtypes regardless of the mutated gene, what this tells us about shared disease mechanisms, and how these markers correlate with disease severity.

Whether you're a researcher, clinician, patient, or advocate interested in MFMs, protein quality control, and potential therapeutic targets, this episode offers a concise overview of the latest findings.

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.

In this Journal Club episode, we discuss the publication by Putko et al. (2026), which describes two patients with HSPB8 variants presenting with overlapping features of myopathy and distal motor neuropathy. The study expands the clinical and pathological spectrum of HSPB8-associated disease and provides new insights into how disease-causing variants may affect HSPB8 function.

This episode is ideal for researchers, clinicians, patients, and advocates interested in HSPB8 disorders, myofibrillar myopathy, distal motor neuropathy, and disease mechanisms.