Ontology highlight
ABSTRACT:
SUBMITTER: Hsiao CT
PROVIDER: S-EPMC4729478 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Hsiao Cheng-Tsung CT Tsai Pei-Chien PC Lin Chou-Ching CC Liu Yo-Tsen YT Huang Yen-Hua YH Liao Yi-Chu YC Huang Han-Wei HW Lin Kon-Ping KP Soong Bing-Wen BW Lee Yi-Chung YC
PloS one 20160127 1
<h4>Background</h4>A small group of patients with inherited neuropathy that has been shown to be caused by mutations in the BSCL2 gene. However, little information is available about the role of BSCL2 mutations in inherited neuropathies in Taiwan.<h4>Methodology and principal findings</h4>Utilizing targeted sequencing, 76 patients with molecularly unassigned Charcot-Marie-Tooth disease type 2 (CMT2) and 8 with distal hereditary motor neuropathy (dHMN), who were selected from 348 unrelated patien ...[more]