Ontology highlight
ABSTRACT:
SUBMITTER: Chen M
PROVIDER: S-EPMC4411414 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
Chen Meiyan M Wu Jing J Liang Ning N Tang Lihui L Chen Yanhua Y Chen Huishuang H Wei Wei W Wei Tianying T Huang Hui H Yi Xin X Qi Ming M
Genomics, proteomics & bioinformatics 20141028 5
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 glaucoma. Since clinical diagnosis alone was insufficient for providing pathogenetic evidence to indicate that the condition belonged to a consanguineous family, we applied whole-exome sequencing to sam ...[more]