China
Research Article
Identification of a Location at Chromosome 19p in a Big Chinese Family with Charcot-Marie-Tooth Disease
Author(s): Fei-Feng Li, Xu-dong Wang, Min-wei Zhu, Hui-wen Xiao, Quan Yang, Xin Shao, Hong-lin Feng, Zhi-Guo Lin and Shu-Lin LiuFei-Feng Li, Xu-dong Wang, Min-wei Zhu, Hui-wen Xiao, Quan Yang, Xin Shao, Hong-lin Feng, Zhi-Guo Lin and Shu-Lin Liu
Background: Autosomal dominant Charcot Marie Tooth disease (CMT) diseases is an inherited peripheral neuropathies disease, the prevalence is 17-40 per 100,000 individuals 17-40 per 100,000 individuals. The complex genetic mode and large number of CMT causing genes and loci made it is very hard for clinicians and researchers when trying to determine the underlying genetic diagnosis. In this work, we want to identify the cause for a Chinese family with Charcot-Marie-Tooth disease.
Methods: Family history data were recorded. Clinical and Electromyography examinations were performed on the ten affected and ten unaffected family members. All the members were genotyped with microsatellite markers at loci considered to be associated with CMT. Two-point LOD scores were calculated using the Linkage software after genotyping. Some highly suspect genes w.. Read More»
DOI:
10.4172/2155-9929.1000144
Molecular Biomarkers & Diagnosis received 2054 citations as per Google Scholar report