Factors Affecting Phenotype Variability in a Family with CMT2B: Gender and LRSAM1 Genotype

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...

Full description

Bibliographic Details
Main Authors: Leema Reddy Peddareddygari, Kinsi Oberoi, Jaasrini Reddy Vellore, Raji P. Grewal
Format: Article
Language:English
Published: Karger Publishers 2016-06-01
Series:Case Reports in Neurology
Subjects:
Charcot-Marie-Tooth disease type 2B
Phenotype variability
Digeneic effect
RAB7A/LRSAM1 gene interactions
Online Access:http://www.karger.com/Article/FullText/446872

Internet

http://www.karger.com/Article/FullText/446872

Similar Items