LRSAM1 and the RING domain: Charcot –Marie–Tooth disease and beyond

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 CMT2...

Source: Orphanet Journal of Rare Diseases - February 10, 2021 Category: Internal Medicine Authors: Paulius Palaima, Jos é Berciano, Kristien Peeters and Albena Jordanova Tags: Review Source Type: research