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Factors Affecting Phenotype Variability in a Family with CMT2B: Gender and LRSAM1 Genotype
Charcot-Marie-Tooth disease type 2 (CMT2) is an autosomal dominant axonal neuropathy caused by mutations in various genes. The subtype CMT2B results from missense mutations in RAB7A, member RAS oncogene family gene, whereas missense mutations in the Leucine-rich repeat and sterile alpha motif-contai...
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| Publicado no: | Case Rep Neurol |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4939679/ https://ncbi.nlm.nih.gov/pubmed/27462242 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000446872 |
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