LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond.

Abstract excerpt

In the past decade, mutations in LRSAM1 were identified as the genetic cause of both dominant and recessive forms of axonal CMT type 2P (CMT2P). Despite demonstrating different inheritance patterns, dominant CMT2P is usually characterized by relatively mild, slowly progressive axonal neuropathy, mainly involving lower limbs, with age of onset between the second and fifth decades of life. Asymptomatic individuals...

Topics

• Axons
• Charcot-Marie-Tooth Disease
• Humans
• Mutation
• Pedigree
• Ubiquitin-Protein Ligases