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Different clinicopathological features between Japanese siblings with facioscapulohumeral muscular dystrophy 2 with a novel nonsense SMCHD1 mutation (Arg552∗).
Ohta Y, Tadokoro K, Sasaki R, Takahashi Y, Sato K, Takemoto M, Hishikawa N, Shang J, Yamashita T, Takehisa Y, Nishino I, Abe K. Ohta Y, et al. Among authors: takemoto m. J Clin Neurosci. 2018 Dec;58:215-217. doi: 10.1016/j.jocn.2018.10.021. Epub 2018 Oct 13. J Clin Neurosci. 2018. PMID: 30327220
895 results