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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 CMT2P is usually characterized by relatively mild, slowly progressive axonal neuropathy, mai...

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Bibliographic Details
Published in:Orphanet J Rare Dis
Main Authors: Palaima, Paulius, Berciano, José, Peeters, Kristien, Jordanova, Albena
Format: Artigo
Language:Inglês
Published: BioMed Central 2021
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7874611/
https://ncbi.nlm.nih.gov/pubmed/33568173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01654-8
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