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

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Cure MFM13 - The Podcast por Cure MFM13 Org

Notas del episodio

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.

Palabras clave
MyopathyCure HSPB8Rare diseaseMedicinehealthhealthcare providerMFM13Cure MFM13