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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Detalles Bibliográficos
Autores principales: Palaima, Paulius, Berciano, José, Peeters, Kristien, Jordanova, Albena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7874611/
https://www.ncbi.nlm.nih.gov/pubmed/33568173
http://dx.doi.org/10.1186/s13023-020-01654-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7874611/
https://www.ncbi.nlm.nih.gov/pubmed/33568173
http://dx.doi.org/10.1186/s13023-020-01654-8

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