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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2021
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| Materias: | |
| 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 |