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A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease
Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy resulting from mutations in >30 genes expressed in either the Schwann cells or the axon of peripheral nerves. The disease is classified into demyelinating (CMT1), axonal (CMT2) or intermediate (CMTI) based on electrophysio...
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| Autores principales: | , , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Nature Publishing Group
2013
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3548253/ https://ncbi.nlm.nih.gov/pubmed/22781092 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.146 |
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