Article
Loss-of-function of EBP50 is a new cause of hereditary peripheral neuropathy: EBP50 functions in peripheral nerve system.
Glia - 1 Sept 2020
Song Gyun Jee, Gupta Deepak Prasad, Rahman Md Habibur, Park Hwan Tae, Al Ghouleh Imad, Bisello Alessandro, Lee Maan-Gee, Park Jae-Yong, Park Hyun Ho, Jun Jin Hyun, Chung Ki Wha, Choi Byung-Ok, Suk Kyoungho
Abstract excerpt
Finding causative genetic mutations is important in the diagnosis and treatment of hereditary peripheral neuropathies. This study was conducted to find new genes involved in the pathophysiology of hereditary peripheral neuropathy. We identified a new mutation in the EBP50 gene, which is co-segregated with neuropathic phenotypes, including motor and sensory deficit in a family with Charcot-Marie-Tooth disease....
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