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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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Podrobná bibliografie
Vydáno v:Orphanet J Rare Dis
Hlavní autoři: Palaima, Paulius, Berciano, José, Peeters, Kristien, Jordanova, Albena
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2021
Témata:
On-line přístup: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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