EP 8: Clinical features of HSPB8 myopathy

EP 13: Journal Club: Zhou et al., 2026 | Molecular, Cellular, and Clinical Aspects of MFM13

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.

EP 12: Journal Club: Putko et al., 2026 | Expanding the Clinical Spectrum of HSPB8 Disease

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.

EP 11: Living with MFM13: Stories Behind the Diagnosis

In this episode, we focus on the patient journey in MFM13, sharing real-life stories from individuals affected by HSPB8-related myopathy. Through their experiences, we explore the challenges of early symptoms, delayed diagnosis, disease progression, and the impact on daily life and families. We also one more time introduce CureMFM13, a patient-driven initiative dedicated to accelerating research, building a strong community, and working toward effective treatments and a cure. This episode is ideal for patients, families, clinicians, and researchers interested in MFM13, rare neuromuscular diseases, and the real-world impact of living with a progressive myopathy.

EP 10: Journal Club: Inoue and Weihl, 2025 | What Makes an MFM? Rethinking Disease Mechanisms

This podcast discusses the recent publication by Inoue and Weihl (2025) on myofibrillar myopathies (MFMs), focusing on their redefinition as “Z-disk-opathies.” In this episode we explore how new genetic findings challenge the traditional, histopathology-based classification and highlight key disease mechanisms, including Z-disk disruption and impaired protein homeostasis. The episode also covers the distinction between so called, true MFMs and other myopathies with similar pathology, as well as the implications for diagnosis and future targeted therapies.

EP 9: Journal Club, Yang et al, 2024 | New Insights Into Pediatric Case of MFM13

In this Journal Club episode, we review the publication by Yang et al., 2024, which presents the first Chinese case of Myofibrillar Myopathy type 13 with Rimmed Vacuoles (MFM13) in a pediatric patient. Unlike previously reported MFM13 cases, this young patient exhibits axial and limb-girdle muscle involvement, highlighting a novel early-onset presentation. This episode is ideal for researchers, clinicians, and patients interested in MFM13, HSPB8 myopathy, rare pediatric neuromuscular cases, and autophagy-related mechanisms. Please note that the article refers to the MFM13 disease as HSPB8-related myopathy.