@article{54c0d3b6739b49a8a2d3484fc5d8b0fd,
title = "TTN missense variants in two siblings with asymmetric facial and limb weakness",
keywords = "Facial weakness, Familial, TTN, Titinopathy, Variant",
author = "Ryo Sasaki and Yasuyuki Ohta and Koh Tadokoro and Namiko Matsumoto and Emi Nomura and Yosio Omote and Mami Takemoto and Nozomi Hishikawa and Toru Yamashita and Theerawat Kumutpongpanich and Ichizo Nishino and Koji Abe",
note = "Funding Information: This work was partly supported by a Grant-in-Aid for Scientific Research (B) 17H0419611 , (C) 15K0931607 , 17H0975609 , and 17K1082709 , by Grants-in-Aid from the Research Committee s (Kaji R, Toba K, and Tsuji S) from the Japan Agency for Medical Research and Development (AMED) 7211800049 , 7211800130 , and 7211700121 , by Intramural Research Grant ( 29-4 and 2-5 ) for Neurological and Psychiatric Disorders of NCNP, and by AMED under Grant Number JP19ek0109285h0003 and 20ek0109490h0001 .",
year = "2020",
month = aug,
day = "15",
doi = "10.1016/j.jns.2020.116885",
language = "English",
volume = "415",
journal = "Journal of the neurological sciences",
issn = "0022-510X",
publisher = "Elsevier",
}