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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Detalles Bibliográficos
Autores principales: Peddareddygari, Leema Reddy, Oberoi, Kinsi, Vellore, Jaasrini Reddy, Grewal, Raji P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939679/
https://www.ncbi.nlm.nih.gov/pubmed/27462242
http://dx.doi.org/10.1159/000446872

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939679/
https://www.ncbi.nlm.nih.gov/pubmed/27462242
http://dx.doi.org/10.1159/000446872

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