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EP 2: For beginners - Introduction to HSPB8 Myopathy or Myofibrillar Myopathy type 13 (MFM13) with Rimmed Vacuoles: What You Need to Know

Author
Cure HSPB8 Org
Published
Tue 20 May 2025
Episode Link
https://rss.com/podcasts/cure-hspb8-the-podcast/2037113

Episode 2 – Introduction to HSPB8 Myopathy: What You Need to Know

In this episode, we break down HSPB8 Myopathy, a rare genetic condition that causes progressive muscle weakness and degeneration. We’ll explore how mutations in the HSPB8 gene lead to the formation of rimmed vacuoles in muscle fibers, and why genetic testing is so important for diagnosing the condition. Whether you're affected by the condition, a clinician, or a researcher, this episode will provide a clear understanding of the disease and its genetic basis.

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