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ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.
Park HJ, Hong YB, Choi YC, Lee J, Kim EJ, Lee JS, Mo WM, Ki SM, Kim HI, Kim HJ, Hyun YS, Hong HD, Nam K, Jung SC, Kim SB, Kim SH, Kim DH, Oh KW, Kim SH, Yoo JH, Lee JE, Chung KW, Choi BO. Park HJ, et al. Among authors: hong hd. Ann Neurol. 2016 Feb;79(2):231-43. doi: 10.1002/ana.24550. Epub 2015 Dec 15. Ann Neurol. 2016. PMID: 26506222
Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation.
Hwang SH, Kim EJ, Hong YB, Joo J, Kim SM, Nam SH, Hong HD, Kim SH, Oh K, Lim JG, Cho JH, Chung KW, Choi BO. Hwang SH, et al. Among authors: hong hd. Mol Med Rep. 2016 Oct;14(4):3362-8. doi: 10.3892/mmr.2016.5664. Epub 2016 Aug 22. Mol Med Rep. 2016. PMID: 27573046