New Podcast (Ep. 8) out now!
We review MFM13 case studies, covering diagnosis, age of onset, phenotype, clinical & muscle biopsy findings. We also explain how HSPB8 frameshift mutations drive protein toxicity, autophagy changes & muscle weakness.
🔗 buff.ly/FpMgHtB
#HSPB8 #MFM13 #CASAComplex
We review MFM13 case studies, covering diagnosis, age of onset, phenotype, clinical & muscle biopsy findings. We also explain how HSPB8 frameshift mutations drive protein toxicity, autophagy changes & muscle weakness.
🔗 buff.ly/FpMgHtB
#HSPB8 #MFM13 #CASAComplex
January 5, 2026 at 6:03 PM
New Podcast (Ep. 8) out now!
We review MFM13 case studies, covering diagnosis, age of onset, phenotype, clinical & muscle biopsy findings. We also explain how HSPB8 frameshift mutations drive protein toxicity, autophagy changes & muscle weakness.
🔗 buff.ly/FpMgHtB
#HSPB8 #MFM13 #CASAComplex
We review MFM13 case studies, covering diagnosis, age of onset, phenotype, clinical & muscle biopsy findings. We also explain how HSPB8 frameshift mutations drive protein toxicity, autophagy changes & muscle weakness.
🔗 buff.ly/FpMgHtB
#HSPB8 #MFM13 #CASAComplex
🧬 New blog post!
Tedesco et al., 2025 reveal 3 new HSPB8 mutations linked to MFM13.
Elongated HSPB8 disrupts the CASA complex, impairing proteostasis.
🔗 Read our full summary: buff.ly/cMr4goI
#HSPB8 #MFM13 #RareDisease #Myopathy #Autophagy #CASAcomplex
Tedesco et al., 2025 reveal 3 new HSPB8 mutations linked to MFM13.
Elongated HSPB8 disrupts the CASA complex, impairing proteostasis.
🔗 Read our full summary: buff.ly/cMr4goI
#HSPB8 #MFM13 #RareDisease #Myopathy #Autophagy #CASAcomplex
curemfm13.org
A important study by Tedesco et al., published on May 2025, that is collaboration of Angelo Poletti and Viriginia Kimonis ' laboratory teams titled “C-terminal HSPB8 frameshift variants define a…
buff.ly
November 14, 2025 at 6:01 PM
🧬 New blog post!
Tedesco et al., 2025 reveal 3 new HSPB8 mutations linked to MFM13.
Elongated HSPB8 disrupts the CASA complex, impairing proteostasis.
🔗 Read our full summary: buff.ly/cMr4goI
#HSPB8 #MFM13 #RareDisease #Myopathy #Autophagy #CASAcomplex
Tedesco et al., 2025 reveal 3 new HSPB8 mutations linked to MFM13.
Elongated HSPB8 disrupts the CASA complex, impairing proteostasis.
🔗 Read our full summary: buff.ly/cMr4goI
#HSPB8 #MFM13 #RareDisease #Myopathy #Autophagy #CASAcomplex