🔬 MFM13 vs CMT2L
CMT2L comes from HSPB8 mutations (K141N/K141T). It’s autosomal dominant with distal weakness, atrophy & sensory loss.
🔍 Unlike MFM13, CMT2L is axonal—nerve damage first.
🧪 Dx: symptoms, nerve studies + HSPB8 testing.
#HSPB8 #CMT2L #MFM13 #Neuromuscular #RareDisease

🎧 Ep. 3 = Journal Club time!
We dig into HSPB8: how do mutations lead to dHMN, CMT2L & myopathy? Based on Rashed et al.’s new review in IJMS.

🎧 buff.ly/IXA0lo4

🧬 #RareDisease #HSPB8 #Neuromuscular #JournalClub #Podcast