🔬 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
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