Article
Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation.
Molecular medicine reports - 1 Oct 2016
Hwang Sun Hee, Kim Eun Ja, Hong Young Bin, Joo Jaesoon, Kim Sung Min, Nam Soo Hyun, Hong Hyun Dae, Kim Seung Hyun, Oh Kiwook, Lim Jeong-Geun, Cho Jeong Hee, Chung Ki Wha, Choi Byung-Ok
Abstract excerpt
Mutations in the Dynactin 1 (DCTN1) gene have been demonstrated to result in various neurodegenerative diseases, including distal hereditary motor neuropathy type 7B (dHMN7B), Perry syndrome, amyotrophic lateral sclerosis and amyotrophic lateral sclerosis‑frontotemporal dementia. However, since the first dHMN7B patient with a DCTN1 mutation was described in 2003, to the best of our knowledge no further cases have...
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