Article
A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy.
Neurology - 16 Jun 2015
Li Xiaobo, Hu Zhengmao, Liu Lei, Xie Yongzhi, Zhan Yajing, Zi Xiaohong, Wang Junling, Wu Lixiang, Xia Kun, Tang Beisha, Zhang Ruxu
Abstract excerpt
OBJECTIVE: To identify the underlying genetic cause in a consanguineous Chinese family segregating distal hereditary motor neuropathy (dHMN) in an autosomal recessive pattern. METHODS: We used whole-exome sequencing and homozygosity mapping to detect the genetic variant in 2 affected individuals of the consanguineous Chinese family with dHMN. RNA analysis of peripheral blood leukocytes and immunofluorescence and...
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