Identification of A Novel SBF2 Frameshift Mutation in Charcot–Marie–Tooth Disease Type 4B2 Using Whole-exome Sequencing

Identification of A Novel SBF2 Frameshift Mutation in Charcot–Marie–Tooth Disease Type 4B2 Using Whole-exome Sequencing

Charcot–Marie–Tooth disease type 4B2 with early-onset glaucoma (CMT4B2, OMIM 604563) is a genetically-heterogeneous childhood-onset neuromuscular disorder. Here, we report the case of a 15-year-old male adolescent with lower extremity weakness, gait abnormalities, foot deformities and early-onset gl...

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Bibliographic Details
Main Authors: Meiyan Chen, Jing Wu, Ning Liang, Lihui Tang, Yanhua Chen, Huishuang Chen, Wei Wei, Tianying Wei, Hui Huang, Xin Yi, Ming Qi
Format: Article
Language:English
Published: Oxford University Press 2014-10-01
Series:Genomics, Proteomics & Bioinformatics
Subjects:
Whole-exome sequencing
Charcot–Marie–Tooth disease
Early-onset glaucoma
SBF2
Online Access:http://www.sciencedirect.com/science/article/pii/S1672022914001089

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http://www.sciencedirect.com/science/article/pii/S1672022914001089

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